S104F (p.Ser104Phe) variant of KRT8 (Keratin, type II cytoskeletal 8)
S104F (p.Ser104Phe) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
S104F (p.Ser104Phe) variant details
- p.Ser104Phe
- gnomAD rs1592166174
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- CADD 24.10
- PolyPhen-2 0.24
- SIFT 0.02
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available