V3M (p.Val3Met) variant of CHEK1 (O14757)
V3M (p.Val3Met) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
V3M (p.Val3Met) variant details
- p.Val3Met
- Ensembl rs2135968566
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.18
- CADD 13.20
- PolyPhen-2 0.06
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available