P19L (p.Pro19Leu) variant of NOTCH3 (Q9UM47)
P19L (p.Pro19Leu) 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.
P19L (p.Pro19Leu) variant details
- p.Pro19Leu
- gnomAD rs1273312264
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.31
- CADD 10.80
- PolyPhen-2 0.03
- SIFT 0.44
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available