E10D (p.Glu10Asp) variant of CHD2 (O14647)
E10D (p.Glu10Asp) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
E10D (p.Glu10Asp) variant details
- p.Glu10Asp
- rs2052591357
- gnomAD 15-92904928-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0513
- CADD 0.81
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available