P22A (p.Pro22Ala) variant of NOTCH2 (Q04721)
P22A (p.Pro22Ala) 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.
P22A (p.Pro22Ala) variant details
- p.Pro22Ala
- TOPMed rs868921483
- gnomAD rs868921483
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.05
- CADD 13.80
- PolyPhen-2 0.01
- SIFT 0.99
- Most common in the African/African-American population (allele frequency 6.2e-05)
- Structural context available