V6A (p.Val6Ala) variant of CHEK1 (O14757)
V6A (p.Val6Ala) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
V6A (p.Val6Ala) variant details
- p.Val6Ala
- rs779205340
- gnomAD 11-125625774-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- CADD 13.60
- Population evidence available
- Structural context available
- Literature evidence available