W71L (p.Trp71Leu) variant of NOTCH3 (Q9UM47)
W71L (p.Trp71Leu) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
W71L (p.Trp71Leu) variant details
- p.Trp71Leu
- TOPMed rs2046938295
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.49
- CADD 21.50
- PolyPhen-2 0.01
- SIFT 0.06
- Population evidence available
- Structural context available