R94G (p.Arg94Gly) variant of KRT17 (Keratin, type I cytoskeletal 17)
R94G (p.Arg94Gly) in KRT17 (Keratin, type I cytoskeletal 17) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
R94G (p.Arg94Gly) variant details
- p.Arg94Gly
- gnomAD 17-41620443-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.115
- CADD 4.83
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available