F5S (p.Phe5Ser) variant of KRT1 (Keratin, type II cytoskeletal 1)
F5S (p.Phe5Ser) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
F5S (p.Phe5Ser) variant details
- p.Phe5Ser
- gnomAD rs1165231759
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.08
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.38
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available