N15Y (p.Asn15Tyr) variant of CHD7 (Q9P2D1)
N15Y (p.Asn15Tyr) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N15Y (p.Asn15Tyr) variant details
- p.Asn15Tyr
- gnomAD 8-60741475-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.24
- MetaLR 0.35
- MetaSVM -0.05
- CADD 25.90
- PolyPhen-2 0.80
- SIFT 0.00
- Population evidence available
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.51
- Literature evidence available