R94W (p.Arg94Trp) variant of KRT17 (Keratin, type I cytoskeletal 17)
R94W (p.Arg94Trp) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R94W (p.Arg94Trp) variant details
- p.Arg94Trp
- rs1357002375
- gnomAD 17-41620452-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- CADD 8.94
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available