A26G (p.Ala26Gly) variant of CHEK1 (O14757)
A26G (p.Ala26Gly) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A26G (p.Ala26Gly) variant details
- p.Ala26Gly
- gnomAD 11-125627618-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.18
- CADD 19.90
- PolyPhen-2 0.11
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available