T511M (p.Thr511Met) variant of COQ8A (Q8NI60)
T511M (p.Thr511Met) in COQ8A (Q8NI60) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive ataxia due to ubiquinone deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
T511M (p.Thr511Met) variant details
- p.Thr511Met
- rs578189699
- ClinGen CA208527
- NCI-TCGA Cosmic COSV6201
- cosmic curated COSV62016
- Likely pathogenic
- Autosomal recessive ataxia due to ubiquinone deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.23
- CADD 25.30
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal recessive ataxia due to ubiquinone deficiency; not pro)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Primary Coenzyme Q(10) Deficiency Overview. (PMID 28125198)