A339T (p.Ala339Thr) variant of COQ8A (Q8NI60)
A339T (p.Ala339Thr) in COQ8A (Q8NI60) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; not provided; Mitochondrial disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
A339T (p.Ala339Thr) variant details
- p.Ala339Thr
- rs755933881
- ClinGen CA358149
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10082
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided; Mitochondrial disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.75
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided; Mitochondrial disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Primary Coenzyme Q(10) Deficiency Overview. (PMID 28125198)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)