A23S (p.Ala23Ser) variant of NOTCH2 (Q04721)
A23S (p.Ala23Ser) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A23S (p.Ala23Ser) variant details
- p.Ala23Ser
- ExAC rs782643034
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.10
- CADD 15.60
- PolyPhen-2 0.01
- SIFT 0.97
- Population evidence available
- Structural context available