G82V (p.Gly82Val) variant of KRT17 (Keratin, type I cytoskeletal 17)
G82V (p.Gly82Val) in KRT17 (Keratin, type I cytoskeletal 17) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
G82V (p.Gly82Val) variant details
- p.Gly82Val
- gnomAD 17-41620477-AGGTG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.127
- CADD 6.55
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available