R14G (p.Arg14Gly) variant of RRAD (GTP-binding protein RAD)
R14G (p.Arg14Gly) 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 0.18 / 1. The record also includes population frequency data and structural context.
R14G (p.Arg14Gly) variant details
- p.Arg14Gly
- rs931159110
- ClinGen CA282271060
- ClinVar RCV004452243
- TOPMed rs931159110
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 20.10
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00096)
- Structural context available