R26S (p.Arg26Ser) variant of ETFB (P38117)
R26S (p.Arg26Ser) in ETFB (P38117) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
R26S (p.Arg26Ser) variant details
- p.Arg26Ser
- rs564020088
- ClinGen CA9610870
- ClinVar RCV002636931
- 1000Genomes rs564020088
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.13
- CADD 14.30
- PolyPhen-2 0.03
- SIFT 0.08
- ClinVar: Uncertain significance (Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)