A45D (p.Ala45Asp) variant of CHEK1 (O14757)
A45D (p.Ala45Asp) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A45D (p.Ala45Asp) variant details
- p.Ala45Asp
- ExAC rs760734978
- gnomAD rs760734978
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.15
- CADD 19.30
- PolyPhen-2 0.12
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available