G37R (p.Gly37Arg) variant of NOTCH3 (Q9UM47)
G37R (p.Gly37Arg) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
G37R (p.Gly37Arg) variant details
- p.Gly37Arg
- 1000Genomes rs757705816
- ExAC rs757705816
- gnomAD rs757705816
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.46
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.39
- Population evidence available
- Structural context available