A45G (p.Ala45Gly) variant of CHEK1 (O14757)
A45G (p.Ala45Gly) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A45G (p.Ala45Gly) variant details
- p.Ala45Gly
- rs1452742433
- gnomAD 11-125625900-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- CADD 17.30
- Most common in the Middle Eastern population (allele frequency 0.00025)
- Structural context available
- Literature evidence available