G102S (p.Gly102Ser) variant of KRT1 (Keratin, type II cytoskeletal 1)
G102S (p.Gly102Ser) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
G102S (p.Gly102Ser) variant details
- p.Gly102Ser
- gnomAD rs868166486
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.33
- CADD 12.80
- PolyPhen-2 0.09
- SIFT 0.27
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available