R65G (p.Arg65Gly) variant of NOTCH2 (Q04721)
R65G (p.Arg65Gly) in NOTCH2 (Q04721) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R65G (p.Arg65Gly) variant details
- p.Arg65Gly
- gnomAD rs1280158106
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.07
- CADD 23.70
- PolyPhen-2 0.79
- SIFT 0.20
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available