From: A novel missense variant expands the phenotype and genotype of PAX6-associated foveal hypoplasia accompanied by various manifestations of anterior segment dysgenesis
Mutation
I-Mutant 2.0
mCSM
SDM
DUET
ENCoM
PAX6-V53M
ΔΔG(kcal/mol)
-0.94
-1.083
-0.630
-1.058
0.224
Prediction
Destabilizing