A19V (p.Ala19Val) variant of CHEK1 (O14757)
A19V (p.Ala19Val) 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 and structural context.
A19V (p.Ala19Val) variant details
- p.Ala19Val
- Ensembl rs2135968764
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- CADD 11.90
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available