R175H (p.Arg175His) variant of ETFDH (Q16134)
R175H (p.Arg175His) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R175H (p.Arg175His) variant details
- p.Arg175His
- rs121964955
- ClinGen CA129815
- ClinVar RCV000024282
- ClinVar RCV001216553
- Pathogenic/Likely pathogenic
- Glutaric acidemia type 2C; not provided; Multiple acyl-CoA dehydrogenase deficie
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- REVEL 0.92
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Glutaric acidemia type 2C; not provided; Multiple acyl-CoA dehyd)
- EBI: Pathogenic (in GA2C)
- UniProt: Pathogenic (in GA2C)
- Most common in the African/African-American population (allele frequency 9e-05)
- 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)