R175C (p.Arg175Cys) variant of ETFDH (Q16134)
R175C (p.Arg175Cys) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Glutaric acidemia type 2C; 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.
R175C (p.Arg175Cys) variant details
- p.Arg175Cys
- rs762928354
- ClinGen CA3122387
- ClinVar RCV000485144
- ClinVar RCV002525759
- Pathogenic/Likely pathogenic
- not provided; Glutaric acidemia type 2C; Multiple acyl-CoA dehydrogenase deficie
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.93
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Glutaric acidemia type 2C; Multiple acyl-CoA dehyd)
- EBI: Pathogenic (in GA2C)
- UniProt: Pathogenic (in GA2C)
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)