G33R (p.Gly33Arg) variant of COQ8A (Q8NI60)
G33R (p.Gly33Arg) in COQ8A (Q8NI60) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
G33R (p.Gly33Arg) variant details
- p.Gly33Arg
- rs552784842
- ClinGen CA321854
- ClinVar RCV000197396
- ClinVar RCV005055708
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.51
- CADD 21.10
- PolyPhen-2 0.44
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available