R109G (p.Arg109Gly) variant of RRAD (GTP-binding protein RAD)
R109G (p.Arg109Gly) in RRAD (GTP-binding protein RAD) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
R109G (p.Arg109Gly) variant details
- p.Arg109Gly
- ExAC rs751752299
- TOPMed rs751752299
- gnomAD rs751752299
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.52
- ESM-1b 0.00
- AlphaMissense 0.19
- CADD 21.90
- PolyPhen-2 0.35
- SIFT 0.90
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available