G34V (p.Gly34Val) variant of CHD2 (O14647)
G34V (p.Gly34Val) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
G34V (p.Gly34Val) variant details
- p.Gly34Val
- gnomAD 15-92901341-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- CADD 11.70
- Population evidence available
- Structural context available
- Literature evidence available