L127F (p.Leu127Phe) variant of ETFDH (Q16134)
L127F (p.Leu127Phe) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Multiple acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
L127F (p.Leu127Phe) variant details
- p.Leu127Phe
- rs1466275942
- ClinGen CA358574496
- cosmic curated COSV10030
- ClinVar RCV002928699
- Likely pathogenic
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.90
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Likely pathogenic (in GA2C)
- UniProt: Likely pathogenic (in GA2C)
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)