N73K (p.Asn73Lys) variant of CHD7 (Q9P2D1)
N73K (p.Asn73Lys) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
N73K (p.Asn73Lys) variant details
- p.Asn73Lys
- gnomAD 8-60741651-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.03
- MetaLR 0.08
- MetaSVM -1.03
- CADD 18.50
- PolyPhen-2 0.02
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available