E31E (p.Glu31Glu) variant of CHD7 (Q9P2D1)
E31E (p.Glu31Glu) in CHD7 (Q9P2D1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E31E (p.Glu31Glu) variant details
- p.Glu31Glu
- rs1809007917
- gnomAD 8-60741525-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.566
- CADD 10.40
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.297
- Literature evidence available