A26V (p.Ala26Val) variant of CHEK1 (O14757)
A26V (p.Ala26Val) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A26V (p.Ala26Val) variant details
- p.Ala26Val
- Ensembl rs1565361701
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.13
- CADD 20.40
- PolyPhen-2 0.08
- SIFT 0.53
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available