G95A (p.Gly95Ala) variant of NOTCH2 (Q04721)
G95A (p.Gly95Ala) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
G95A (p.Gly95Ala) variant details
- p.Gly95Ala
- ExAC rs782475359
- TOPMed rs782475359
- gnomAD rs782475359
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.82
- CADD 24.60
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available