G42V (p.Gly42Val) variant of NOTCH1 (P46531)
G42V (p.Gly42Val) in NOTCH1 (P46531) 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 0.67 / 1. The record also includes population frequency data and structural context.
G42V (p.Gly42Val) variant details
- p.Gly42Val
- rs754666783
- ClinGen CA375578785
- ClinVar RCV003313560
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- CADD 26.30
- PolyPhen-2 0.95
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available