R4K (p.Arg4Lys) variant of KRT4 (Keratin, type II cytoskeletal 4)
R4K (p.Arg4Lys) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
R4K (p.Arg4Lys) variant details
- p.Arg4Lys
- ExAC rs764236121
- TOPMed rs764236121
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.21
- CADD 20.70
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available