D12E (p.Asp12Glu) variant of CHD2 (O14647)
D12E (p.Asp12Glu) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
D12E (p.Asp12Glu) variant details
- p.Asp12Glu
- gnomAD 15-92901273-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.29
- MetaLR 0.38
- MetaSVM -0.48
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available