G73C (p.Gly73Cys) variant of NOTCH3 (Q9UM47)
G73C (p.Gly73Cys) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
G73C (p.Gly73Cys) variant details
- p.Gly73Cys
- Ensembl rs2145443842
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- REVEL 0.94
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available