L334P (p.Leu334Pro) variant of ETFDH (Q16134)
L334P (p.Leu334Pro) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Glutaric acidemia type 2C; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
L334P (p.Leu334Pro) variant details
- p.Leu334Pro
- rs377686388
- ClinGen CA346892
- ClinVar RCV000180601
- ClinVar RCV000723385
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Glutaric acidemia type 2C; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.87
- CADD 28.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Glutaric acidemia type 2C; not provided)
- EBI: Pathogenic (in GA2C)
- UniProt: Pathogenic (in GA2C)
- Most common in the REMAINING population (allele frequency 0.00012)
- Structural context available
- Cited in: Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase… (PMID 12359134)
- Cited in: Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation… (PMID 12815589)