G97S (p.Gly97Ser) variant of KRT1 (Keratin, type II cytoskeletal 1)
G97S (p.Gly97Ser) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
G97S (p.Gly97Ser) variant details
- p.Gly97Ser
- Ensembl rs868799940
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.39
- CADD 7.99
- PolyPhen-2 0.14
- SIFT 0.31
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available