D32E (p.Asp32Glu) variant of CHD2 (O14647)
D32E (p.Asp32Glu) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
D32E (p.Asp32Glu) variant details
- p.Asp32Glu
- rs955573131
- gnomAD 15-92904994-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- CADD 14.10
- SIFT 0.34
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available