S35F (p.Ser35Phe) variant of KRT1 (Keratin, type II cytoskeletal 1)
S35F (p.Ser35Phe) 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.
S35F (p.Ser35Phe) variant details
- p.Ser35Phe
- ExAC rs776371326
- gnomAD rs776371326
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.39
- CADD 22.50
- PolyPhen-2 0.69
- SIFT 0.17
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available