A20V (p.Ala20Val) variant of NOTCH2 (Q04721)
A20V (p.Ala20Val) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- TOPMed rs1302570383
- gnomAD rs1302570383
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.17
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.57
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available