P28S (p.Pro28Ser) variant of NOTCH3 (Q9UM47)
P28S (p.Pro28Ser) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
P28S (p.Pro28Ser) variant details
- p.Pro28Ser
- Ensembl rs2145457503
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.32
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.41
- Population evidence available
- Structural context available