V76M (p.Val76Met) variant of KRT17 (Keratin, type I cytoskeletal 17)
V76M (p.Val76Met) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
V76M (p.Val76Met) variant details
- p.Val76Met
- rs575886189
- gnomAD 17-41620500-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.102
- CADD 2.97
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available