A20S (p.Ala20Ser) variant of NOTCH2 (Q04721)
A20S (p.Ala20Ser) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A20S (p.Ala20Ser) variant details
- p.Ala20Ser
- gnomAD rs1553217914
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.08
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.45
- Population evidence available
- Structural context available