G70S (p.Gly70Ser) variant of KRT17 (Keratin, type I cytoskeletal 17)
G70S (p.Gly70Ser) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
G70S (p.Gly70Ser) variant details
- p.Gly70Ser
- gnomAD rs1482183368
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.18
- CADD 16.50
- PolyPhen-2 0.06
- SIFT 0.23
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available