G34V (p.Gly34Val) variant of NOTCH1 (P46531)
G34V (p.Gly34Val) in NOTCH1 (P46531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
G34V (p.Gly34Val) variant details
- p.Gly34Val
- Ensembl rs1197823538
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- CADD 26.50
- PolyPhen-2 0.93
- SIFT 0.00
- Population evidence available
- Structural context available