A11S (p.Ala11Ser) variant of NOTCH2 (Q04721)
A11S (p.Ala11Ser) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A11S (p.Ala11Ser) variant details
- p.Ala11Ser
- TOPMed rs1231551231
- gnomAD rs1231551231
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.20
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.74
- Population evidence available
- Structural context available