A19D (p.Ala19Asp) variant of CHEK1 (O14757)
A19D (p.Ala19Asp) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A19D (p.Ala19Asp) variant details
- p.Ala19Asp
- gnomAD 11-125625819-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- CADD 8.84
- Population evidence available
- Structural context available
- Literature evidence available