G21D (p.Gly21Asp) variant of CHEK1 (O14757)
G21D (p.Gly21Asp) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
G21D (p.Gly21Asp) variant details
- p.Gly21Asp
- rs1211698286
- gnomAD 11-125625825-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- CADD 10.40
- Most common in the East Asian population (allele frequency 3.1e-05)
- Structural context available
- Literature evidence available