G49V (p.Gly49Val) variant of NOTCH1 (P46531)
G49V (p.Gly49Val) in NOTCH1 (P46531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
G49V (p.Gly49Val) variant details
- p.Gly49Val
- Ensembl rs2133379875
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- CADD 11.50
- PolyPhen-2 0.01
- SIFT 0.38
- Population evidence available
- Structural context available