R5L (p.Arg5Leu) variant of ETFB (P38117)
R5L (p.Arg5Leu) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R5L (p.Arg5Leu) variant details
- p.Arg5Leu
- rs949269058
- ClinGen CA309746130
- ClinVar RCV002751596
- ClinVar RCV005333337
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.67
- CADD 29.10
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (Multiple acyl-CoA dehydrogenase deficiency; Inborn genetic disea)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)