A25V (p.Ala25Val) variant of NOTCH2 (Q04721)
A25V (p.Ala25Val) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A25V (p.Ala25Val) variant details
- p.Ala25Val
- gnomAD rs1553210734
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.24
- CADD 25.70
- PolyPhen-2 0.48
- SIFT 0.07
- Population evidence available
- Structural context available