Y69H (p.Tyr69His) variant of KRT17 (Keratin, type I cytoskeletal 17)
Y69H (p.Tyr69His) 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.
Y69H (p.Tyr69His) variant details
- p.Tyr69His
- rs199861227
- gnomAD 17-41620530-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- CADD 12.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available