H81Y (p.His81Tyr) variant of CHD7 (Q9P2D1)
H81Y (p.His81Tyr) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
H81Y (p.His81Tyr) variant details
- p.His81Tyr
- gnomAD 8-60741673-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.44
- MetaLR 0.34
- MetaSVM -0.27
- CADD 22.90
- PolyPhen-2 0.35
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available