S77A (p.Ser77Ala) variant of KRT1 (Keratin, type II cytoskeletal 1)
S77A (p.Ser77Ala) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
S77A (p.Ser77Ala) variant details
- p.Ser77Ala
- TOPMed rs1224329691
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.31
- CADD 22.80
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available