M555I (p.Met555Ile) variant of COQ8A (Q8NI60)
M555I (p.Met555Ile) 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; Autosomal recessive ataxia due to ubiquin. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
M555I (p.Met555Ile) variant details
- p.Met555Ile
- rs199874519
- ClinGen CA358215
- ClinVar RCV000210698
- ClinVar RCV000482785
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided; Autosomal recessive ataxia due to ubiquin
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.57
- CADD 27.70
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided; Autosomal recessive ataxi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0012)
- Structural context available
- Cited in: Primary Coenzyme Q(10) Deficiency Overview. (PMID 28125198)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)