G21V (p.Gly21Val) variant of CHEK1 (O14757)
G21V (p.Gly21Val) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
G21V (p.Gly21Val) variant details
- p.Gly21Val
- rs946157626
- gnomAD 11-125625879-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0704
- CADD 0.19
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available