N73Y (p.Asn73Tyr) variant of CHD7 (Q9P2D1)
N73Y (p.Asn73Tyr) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
N73Y (p.Asn73Tyr) variant details
- p.Asn73Tyr
- gnomAD 8-60741649-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.11
- MetaLR 0.12
- MetaSVM -0.88
- CADD 23.30
- PolyPhen-2 0.25
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available