P68S (p.Pro68Ser) variant of NOTCH3 (Q9UM47)
P68S (p.Pro68Ser) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
P68S (p.Pro68Ser) variant details
- p.Pro68Ser
- Ensembl rs919570567
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.31
- CADD 20.50
- PolyPhen-2 0.15
- SIFT 0.38
- Population evidence available
- Structural context available