R94K (p.Arg94Lys) variant of KRT17 (Keratin, type I cytoskeletal 17)
R94K (p.Arg94Lys) in KRT17 (Keratin, type I cytoskeletal 17) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
R94K (p.Arg94Lys) variant details
- p.Arg94Lys
- gnomAD 17-41620451-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.191
- CADD 7.16
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available