E76A (p.Glu76Ala) variant of CHD7 (Q9P2D1)
E76A (p.Glu76Ala) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
E76A (p.Glu76Ala) variant details
- p.Glu76Ala
- Ensembl rs868628978
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.19
- MetaLR 0.22
- MetaSVM -0.67
- CADD 23.50
- PolyPhen-2 0.09
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available