G35R (p.Gly35Arg) variant of NOTCH1 (P46531)
G35R (p.Gly35Arg) in NOTCH1 (P46531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Adams-Oliver syndrome 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
G35R (p.Gly35Arg) variant details
- p.Gly35Arg
- rs1843774247
- ClinGen CA375579057
- ClinVar RCV001216503
- Ensembl rs1843774247
- Uncertain significance
- Adams-Oliver syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Adams-Oliver syndrome 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available