G46R (p.Gly46Arg) variant of NOTCH3 (Q9UM47)
G46R (p.Gly46Arg) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
G46R (p.Gly46Arg) variant details
- p.Gly46Arg
- ExAC rs748968901
- TOPMed rs748968901
- gnomAD rs748968901
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.31
- CADD 23.10
- PolyPhen-2 0.04
- SIFT 0.05
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available