Q40H (p.Gln40His) variant of CHD7 (Q9P2D1)
Q40H (p.Gln40His) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q40H (p.Gln40His) variant details
- p.Gln40His
- ExAC rs753525257
- TOPMed rs753525257
- gnomAD rs753525257
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.20
- MetaLR 0.17
- MetaSVM -0.71
- CADD 21.80
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.402