R41S (p.Arg41Ser) variant of KRT14 (Keratin, type I cytoskeletal 14)
R41S (p.Arg41Ser) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R41S (p.Arg41Ser) variant details
- p.Arg41Ser
- 1000Genomes rs536753971
- ExAC rs536753971
- TOPMed rs536753971
- gnomAD rs536753971
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.41
- CADD 22.30
- PolyPhen-2 0.04
- SIFT 0.02
- Population evidence available
- Structural context available