P69S (p.Pro69Ser) variant of NOTCH3 (Q9UM47)
P69S (p.Pro69Ser) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
P69S (p.Pro69Ser) variant details
- p.Pro69Ser
- Ensembl rs2145443909
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.44
- CADD 15.80
- PolyPhen-2 0.22
- SIFT 0.74
- Population evidence available
- Structural context available