G73V (p.Gly73Val) variant of NOTCH3 (Q9UM47)
G73V (p.Gly73Val) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
G73V (p.Gly73Val) variant details
- p.Gly73Val
- rs2145443837
- ClinGen CA404535164
- ClinVar RCV002475333
- Ensembl rs2145443837
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 0.96
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available