Y69D (p.Tyr69Asp) variant of KRT17 (Keratin, type I cytoskeletal 17)
Y69D (p.Tyr69Asp) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
Y69D (p.Tyr69Asp) variant details
- p.Tyr69Asp
- rs199861227
- gnomAD 17-41620530-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- CADD 12.50
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available