A2S (p.Ala2Ser) variant of CHEK1 (O14757)
A2S (p.Ala2Ser) 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.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- gnomAD 11-125625770-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- CADD 14.30
- Population evidence available
- Structural context available
- Literature evidence available