L138F (p.Leu138Phe) variant of ETFDH (Q16134)
L138F (p.Leu138Phe) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Multiple acyl-CoA dehydrogenase deficiency. 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.
L138F (p.Leu138Phe) variant details
- p.Leu138Phe
- rs1773952713
- ClinGen CA358574915
- ClinVar RCV003061551
- ClinVar RCV003235766
- Conflicting interpretations
- not specified; Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.71
- CADD 23.30
- PolyPhen-2 0.35
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (not specified; Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Likely pathogenic (in GA2C)
- UniProt: Likely pathogenic (in GA2C)
- Most common in the Non-Finnish European population (allele frequency 2.9e-06)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)