P81H (p.Pro81His) variant of NOTCH3 (Q9UM47)
P81H (p.Pro81His) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
P81H (p.Pro81His) variant details
- p.Pro81His
- ExAC rs749724379
- gnomAD rs749724379
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.75
- CADD 25.90
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available