A84T (p.Ala84Thr) variant of ETFDH (Q16134)
A84T (p.Ala84Thr) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Glutaric acidemia type 2C; not provided; Multiple acyl-CoA dehydrogenase deficie. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
A84T (p.Ala84Thr) variant details
- p.Ala84Thr
- rs121964954
- ClinGen CA121817
- ClinVar RCV000012808
- ClinVar RCV000224728
- Pathogenic
- Glutaric acidemia type 2C; not provided; Multiple acyl-CoA dehydrogenase deficie
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.89
- CADD 27.40
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic (Glutaric acidemia type 2C; not provided; Multiple acyl-CoA dehyd)
- EBI: Pathogenic (in GA2C)
- UniProt: Pathogenic (in GA2C)
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available
- Cited in: ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple… (PMID 19249206)
- Cited in: High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy. (PMID 20370797)