E62G (p.Glu62Gly) variant of NOTCH3 (Q9UM47)
E62G (p.Glu62Gly) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
E62G (p.Glu62Gly) variant details
- p.Glu62Gly
- gnomAD rs1317877838
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.61
- CADD 24.90
- PolyPhen-2 0.53
- SIFT 0.10
- Most common in the Latino/Admixed American population (allele frequency 2.6e-05)
- Structural context available