R51G (p.Arg51Gly) variant of ETFB (P38117)
R51G (p.Arg51Gly) 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 0.80 / 1. The record also includes published literature and structural context.
R51G (p.Arg51Gly) variant details
- p.Arg51Gly
- rs1308673942
- ClinGen CA407083215
- ClinVar RCV003035340
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- AlphaMissense 0.73
- MetaLR 0.76
- MetaSVM 0.61
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Uncertain significance (Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)