C42R (p.Cys42Arg) variant of ETFB (P38117)
C42R (p.Cys42Arg) in ETFB (P38117) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
C42R (p.Cys42Arg) variant details
- p.Cys42Arg
- rs774387920
- ClinGen CA9610859
- ClinVar RCV003476359
- ExAC rs774387920
- Pathogenic/Likely pathogenic
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.82
- CADD 25.10
- PolyPhen-2 0.94
- SIFT 0.09
- ClinVar: Pathogenic/Likely pathogenic (Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 9.3e-05)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)