D12G (p.Asp12Gly) variant of CHD2 (O14647)
D12G (p.Asp12Gly) 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.
D12G (p.Asp12Gly) variant details
- p.Asp12Gly
- gnomAD 15-92901272-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.41
- MetaLR 0.52
- MetaSVM 0.17
- CADD 25.60
- PolyPhen-2 0.13
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available