G34D (p.Gly34Asp) variant of CHD2 (O14647)
G34D (p.Gly34Asp) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G34D (p.Gly34Asp) variant details
- p.Gly34Asp
- ExAC rs751460719
- gnomAD rs751460719
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.06
- MetaLR 0.54
- MetaSVM -0.18
- CADD 23.70
- PolyPhen-2 0.21
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available