P22L (p.Pro22Leu) variant of NOTCH2 (Q04721)
P22L (p.Pro22Leu) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
P22L (p.Pro22Leu) variant details
- p.Pro22Leu
- ExAC rs782038396
- TOPMed rs782038396
- gnomAD rs782038396
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.06
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.75
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available