P22S (p.Pro22Ser) variant of NOTCH2 (Q04721)
P22S (p.Pro22Ser) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
P22S (p.Pro22Ser) variant details
- p.Pro22Ser
- TOPMed rs868921483
- gnomAD rs868921483
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.04
- CADD 15.60
- PolyPhen-2 0.01
- SIFT 0.88
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available