R4K (p.Arg4Lys) variant of KRT9 (Keratin, type I cytoskeletal 9)
R4K (p.Arg4Lys) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R4K (p.Arg4Lys) variant details
- p.Arg4Lys
- gnomAD rs1907108198
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.38
- CADD 20.60
- PolyPhen-2 0.23
- SIFT 0.01
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available