S6N (p.Ser6Asn) variant of KRT1 (Keratin, type II cytoskeletal 1)
S6N (p.Ser6Asn) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
S6N (p.Ser6Asn) variant details
- p.Ser6Asn
- ExAC rs776478134
- gnomAD rs776478134
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.16
- CADD 17.10
- PolyPhen-2 0.35
- SIFT 0.32
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available