G52E (p.Gly52Glu) variant of NOTCH3 (Q9UM47)
G52E (p.Gly52Glu) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
G52E (p.Gly52Glu) variant details
- p.Gly52Glu
- TOPMed rs1389999486
- gnomAD rs1389999486
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.84
- CADD 23.90
- PolyPhen-2 0.91
- SIFT 0.11
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available