D6G (p.Asp6Gly) variant of CHD2 (O14647)
D6G (p.Asp6Gly) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
D6G (p.Asp6Gly) variant details
- p.Asp6Gly
- rs777729118
- gnomAD 15-92904930-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- CADD 7.17
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available