L17P (p.Leu17Pro) variant of NOTCH1 (P46531)
L17P (p.Leu17Pro) in NOTCH1 (P46531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
L17P (p.Leu17Pro) variant details
- p.Leu17Pro
- Ensembl rs2133408570
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 0.18
- Population evidence available
- Structural context available