E38A (p.Glu38Ala) variant of CHD2 (O14647)
E38A (p.Glu38Ala) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
E38A (p.Glu38Ala) variant details
- p.Glu38Ala
- gnomAD 15-92901347-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- CADD 16.10
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available