L409F (p.Leu409Phe) variant of ETFDH (Q16134)
L409F (p.Leu409Phe) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Glutaric acidemia type 2C; Multiple acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
L409F (p.Leu409Phe) variant details
- p.Leu409Phe
- rs1200031596
- ClinGen CA358563000
- cosmic curated COSV10588
- ClinVar RCV001380775
- Pathogenic
- Glutaric acidemia type 2C; Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.92
- CADD 24.50
- PolyPhen-2 0.70
- SIFT 0.00
- ClinVar: Pathogenic (Glutaric acidemia type 2C; Multiple acyl-CoA dehydrogenase defic)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)