R24K (p.Arg24Lys) variant of KRT6A (Keratin, type II cytoskeletal 6A)
R24K (p.Arg24Lys) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R24K (p.Arg24Lys) variant details
- p.Arg24Lys
- 1000Genomes rs1244209640
- TOPMed rs1244209640
- gnomAD rs1244209640
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.20
- CADD 16.30
- PolyPhen-2 0.10
- SIFT 0.29
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available