P19A (p.Pro19Ala) variant of NOTCH3 (Q9UM47)
P19A (p.Pro19Ala) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
P19A (p.Pro19Ala) variant details
- p.Pro19Ala
- ExAC rs778680746
- gnomAD rs778680746
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.36
- CADD 8.55
- PolyPhen-2 0.01
- SIFT 1.00
- Population evidence available
- Structural context available