A19G (p.Ala19Gly) variant of CHEK1 (O14757)
A19G (p.Ala19Gly) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A19G (p.Ala19Gly) variant details
- p.Ala19Gly
- rs1229187837
- gnomAD 11-125625816-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- CADD 10.60
- Most common in the East Asian population (allele frequency 3.1e-05)
- Structural context available
- Literature evidence available