G37V (p.Gly37Val) variant of NOTCH3 (Q9UM47)
G37V (p.Gly37Val) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
G37V (p.Gly37Val) variant details
- p.Gly37Val
- TOPMed rs2047006556
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.42
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 0.52
- Population evidence available
- Structural context available