R6C (p.Arg6Cys) variant of KRT16 (Keratin, type I cytoskeletal 16)
R6C (p.Arg6Cys) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R6C (p.Arg6Cys) variant details
- p.Arg6Cys
- ExAC rs752729625
- TOPMed rs752729625
- gnomAD rs752729625
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.34
- CADD 23.40
- PolyPhen-2 0.33
- SIFT 0.07
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available