G32A (p.Gly32Ala) variant of KRT2 (P35908)
G32A (p.Gly32Ala) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
G32A (p.Gly32Ala) variant details
- p.Gly32Ala
- ExAC rs760252823
- gnomAD rs760252823
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.12
- CADD 16.20
- PolyPhen-2 0.01
- SIFT 0.27
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available