G76S (p.Gly76Ser) variant of NOTCH2 (Q04721)
G76S (p.Gly76Ser) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
G76S (p.Gly76Ser) variant details
- p.Gly76Ser
- TOPMed rs1373951384
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.69
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available