G70A (p.Gly70Ala) variant of KRT17 (Keratin, type I cytoskeletal 17)
G70A (p.Gly70Ala) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
G70A (p.Gly70Ala) variant details
- p.Gly70Ala
- gnomAD 17-41620520-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- CADD 6.23
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available