A83S (p.Ala83Ser) variant of NOTCH2 (Q04721)
A83S (p.Ala83Ser) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A83S (p.Ala83Ser) variant details
- p.Ala83Ser
- ExAC rs782209743
- gnomAD rs782209743
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.15
- CADD 19.10
- PolyPhen-2 0.96
- SIFT 0.80
- Population evidence available
- Structural context available