S13F (p.Ser13Phe) variant of KRT8 (Keratin, type II cytoskeletal 8)
S13F (p.Ser13Phe) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
S13F (p.Ser13Phe) variant details
- p.Ser13Phe
- ExAC rs746423423
- gnomAD rs746423423
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- CADD 23.10
- PolyPhen-2 0.12
- SIFT 0.05
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available