S43N (p.Ser43Asn) variant of KRT8 (Keratin, type II cytoskeletal 8)
S43N (p.Ser43Asn) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data.
S43N (p.Ser43Asn) variant details
- p.Ser43Asn
- ExAC rs764041785
- gnomAD rs764041785
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- CADD 23.10
- PolyPhen-2 0.45
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)