R41Q (p.Arg41Gln) variant of ETFDH (Q16134)
R41Q (p.Arg41Gln) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Multiple acyl-CoA dehydrogenase deficiency; Inborn genetic disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
R41Q (p.Arg41Gln) variant details
- p.Arg41Gln
- rs150105001
- ClinGen CA3122279
- ClinVar RCV002210294
- ClinVar RCV002261450
- Conflicting interpretations
- not provided; Multiple acyl-CoA dehydrogenase deficiency; Inborn genetic disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.30
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Conflicting classifications of pathogenicity (not provided; Multiple acyl-CoA dehydrogenase deficiency; Inborn)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00068)
- 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)