L27P (p.Leu27Pro) variant of NOTCH3 (Q9UM47)
L27P (p.Leu27Pro) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
L27P (p.Leu27Pro) variant details
- p.Leu27Pro
- Ensembl rs2047006980
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.65
- CADD 22.70
- PolyPhen-2 0.03
- SIFT 0.08
- Population evidence available
- Structural context available