A20G (p.Ala20Gly) variant of NOTCH2 (Q04721)
A20G (p.Ala20Gly) 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.
A20G (p.Ala20Gly) variant details
- p.Ala20Gly
- TOPMed rs1302570383
- gnomAD rs1302570383
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.15
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.37
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available