G21S (p.Gly21Ser) variant of CHEK1 (O14757)
G21S (p.Gly21Ser) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
G21S (p.Gly21Ser) variant details
- p.Gly21Ser
- rs73616024
- gnomAD 11-125625824-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- CADD 9.14
- Most common in the 1KG:ASW population (allele frequency 0.049)
- Structural context available
- Literature evidence available