G16R (p.Gly16Arg) variant of RRAD (GTP-binding protein RAD)
G16R (p.Gly16Arg) 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 0.21 / 1. The record also includes population frequency data and structural context.
G16R (p.Gly16Arg) variant details
- p.Gly16Arg
- TOPMed rs1054800829
- gnomAD rs1054800829
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 23.80
- PolyPhen-2 0.30
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00014)
- Structural context available