R85Q (p.Arg85Gln) variant of ETFB (P38117)
R85Q (p.Arg85Gln) in ETFB (P38117) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Multiple acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R85Q (p.Arg85Gln) variant details
- p.Arg85Gln
- rs747881617
- ClinGen CA9610810
- ClinVar RCV003051206
- ClinVar RCV003076432
- Uncertain significance
- Inborn genetic diseases; Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- REVEL 0.82
- AlphaMissense 0.24
- MetaLR 0.77
- MetaSVM 0.69
- CADD 25.50
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Multiple acyl-CoA dehydrogenase deficie)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)