A45E (p.Ala45Glu) variant of CHEK1 (O14757)
A45E (p.Ala45Glu) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
A45E (p.Ala45Glu) variant details
- p.Ala45Glu
- gnomAD 11-125625924-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- CADD 23.30
- Population evidence available
- Structural context available
- Literature evidence available