E31Q (p.Glu31Gln) variant of CHD7 (Q9P2D1)
E31Q (p.Glu31Gln) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E31Q (p.Glu31Gln) variant details
- p.Glu31Gln
- gnomAD 8-60741523-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.18
- MetaLR 0.08
- MetaSVM -1.05
- CADD 18.30
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.297
- Literature evidence available