P81L (p.Pro81Leu) variant of NOTCH3 (Q9UM47)
P81L (p.Pro81Leu) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
P81L (p.Pro81Leu) variant details
- p.Pro81Leu
- ExAC rs749724379
- gnomAD rs749724379
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.69
- CADD 25.90
- PolyPhen-2 0.62
- SIFT 0.01
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available