V6G (p.Val6Gly) variant of CHEK1 (O14757)
V6G (p.Val6Gly) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
V6G (p.Val6Gly) variant details
- p.Val6Gly
- gnomAD 11-125626785-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.43
- CADD 28.80
- PolyPhen-2 0.86
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available