A7G (p.Ala7Gly) variant of NOTCH2 (Q04721)
A7G (p.Ala7Gly) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A7G (p.Ala7Gly) variant details
- p.Ala7Gly
- TOPMed rs1553217938
- gnomAD rs1553217938
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.18
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available