S15F (p.Ser15Phe) variant of KRT8 (Keratin, type II cytoskeletal 8)
S15F (p.Ser15Phe) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
S15F (p.Ser15Phe) variant details
- p.Ser15Phe
- cosmic curated COSV53177
- ExAC rs757605500
- gnomAD rs757605500
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- CADD 25.70
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available