A2G (p.Ala2Gly) variant of CHEK1 (O14757)
A2G (p.Ala2Gly) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A2G (p.Ala2Gly) variant details
- p.Ala2Gly
- ExAC rs757321404
- gnomAD rs757321404
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.22
- CADD 23.50
- PolyPhen-2 0.55
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available