A84V (p.Ala84Val) variant of ETFDH (Q16134)
A84V (p.Ala84Val) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Multiple acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
A84V (p.Ala84Val) variant details
- p.Ala84Val
- rs1580396712
- ClinGen CA358574024
- ClinVar RCV002035269
- Ensembl rs1580396712
- Pathogenic/Likely pathogenic
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- MutPred 0.89
- ClinVar: Pathogenic/Likely pathogenic (Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Pathogenic (in GA2C)
- UniProt: Pathogenic (in GA2C)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)