R6C (p.Arg6Cys) variant of KRT14 (Keratin, type I cytoskeletal 14)
R6C (p.Arg6Cys) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
R6C (p.Arg6Cys) variant details
- p.Arg6Cys
- ExAC rs766646368
- TOPMed rs766646368
- gnomAD rs766646368
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.59
- CADD 28.70
- PolyPhen-2 0.93
- SIFT 0.04
- Most common in the South Asian population (allele frequency 4.8e-05)
- Structural context available