G50V (p.Gly50Val) variant of NOTCH1 (P46531)
G50V (p.Gly50Val) in NOTCH1 (P46531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
G50V (p.Gly50Val) variant details
- p.Gly50Val
- Ensembl rs2133379870
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- CADD 14.20
- PolyPhen-2 0.00
- SIFT 0.26
- Population evidence available
- Structural context available