G54V (p.Gly54Val) variant of NOTCH1 (P46531)
G54V (p.Gly54Val) in NOTCH1 (P46531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
G54V (p.Gly54Val) variant details
- p.Gly54Val
- Ensembl rs2133379818
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available