R46C (p.Arg46Cys) variant of ETFA (P13804)
R46C (p.Arg46Cys) in ETFA (P13804) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Multiple acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R46C (p.Arg46Cys) variant details
- p.Arg46Cys
- rs769908660
- ClinGen CA7673856
- ClinVar RCV003079793
- ExAC rs769908660
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.33
- ESM-1b 1.00
- AlphaMissense 0.13
- CADD 18.40
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)