G30V (p.Gly30Val) variant of CHD2 (O14647)
G30V (p.Gly30Val) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
G30V (p.Gly30Val) variant details
- p.Gly30Val
- rs1159397411
- gnomAD 15-92904996-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- CADD 18.10
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 0.00021)
- Structural context available
- Literature evidence available