G615D (p.Gly615Asp) variant of COQ8A (Q8NI60)
G615D (p.Gly615Asp) in COQ8A (Q8NI60) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive ataxia due to ubiquinone deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
G615D (p.Gly615Asp) variant details
- p.Gly615Asp
- rs752130338
- ClinGen CA16044184
- ClinVar RCV000416410
- ExAC rs752130338
- Pathogenic
- Autosomal recessive ataxia due to ubiquinone deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- AlphaMissense 0.93
- MetaLR 0.85
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Pathogenic (Autosomal recessive ataxia due to ubiquinone deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Primary Coenzyme Q(10) Deficiency Overview. (PMID 28125198)