P456L (p.Pro456Leu) variant of ETFDH (Q16134)
P456L (p.Pro456Leu) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Glutaric acidemia type 2C; not provided; Multiple acyl-CoA dehydrogenase deficie. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
P456L (p.Pro456Leu) variant details
- p.Pro456Leu
- rs398124152
- ClinGen CA285628
- cosmic curated COSV56988
- ClinVar RCV000081077
- Pathogenic/Likely pathogenic
- Glutaric acidemia type 2C; not provided; Multiple acyl-CoA dehydrogenase deficie
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- REVEL 0.89
- CADD 24.80
- PolyPhen-2 0.66
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Glutaric acidemia type 2C; not provided; Multiple acyl-CoA dehyd)
- EBI: Pathogenic (in GA2C)
- UniProt: Pathogenic (in GA2C)
- Most common in the REMAINING population (allele frequency 0.00025)
- Structural context available
- Cited in: Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase… (PMID 12359134)
- Cited in: The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein… (PMID 17412732)