A20E (p.Ala20Glu) variant of NOTCH2 (Q04721)
A20E (p.Ala20Glu) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
A20E (p.Ala20Glu) variant details
- p.Ala20Glu
- TOPMed rs1302570383
- gnomAD rs1302570383
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.35
- CADD 17.10
- PolyPhen-2 0.01
- SIFT 0.31
- Most common in the East Asian population (allele frequency 5.3e-05)
- Structural context available