R41C (p.Arg41Cys) variant of KRT14 (Keratin, type I cytoskeletal 14)
R41C (p.Arg41Cys) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R41C (p.Arg41Cys) variant details
- p.Arg41Cys
- 1000Genomes rs536753971
- ExAC rs536753971
- TOPMed rs536753971
- gnomAD rs536753971
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.37
- CADD 23.30
- PolyPhen-2 0.42
- SIFT 0.00
- Most common in the HGDP:HAZARA population (allele frequency 0.031)
- Structural context available