G20S (p.Gly20Ser) variant of KRT1 (Keratin, type II cytoskeletal 1)
G20S (p.Gly20Ser) 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.
G20S (p.Gly20Ser) variant details
- p.Gly20Ser
- TOPMed rs1398806309
- gnomAD rs1398806309
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.11
- CADD 15.30
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available