L377P (p.Leu377Pro) variant of ETFDH (Q16134)
L377P (p.Leu377Pro) 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; Inborn genetic diseases; Multiple acyl-CoA dehydrogen. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
L377P (p.Leu377Pro) variant details
- p.Leu377Pro
- rs387907170
- ClinGen CA129834
- ClinVar RCV000024305
- ClinVar RCV000210651
- Pathogenic/Likely pathogenic
- Glutaric acidemia type 2C; Inborn genetic diseases; Multiple acyl-CoA dehydrogen
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.92
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.06
- ClinVar: Pathogenic/Likely pathogenic (Glutaric acidemia type 2C; Inborn genetic diseases; Multiple acy)
- EBI: Pathogenic (in GA2C)
- UniProt: Pathogenic (in GA2C)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Coenzyme Q10 deficiency and isolated myopathy. (PMID 16434667)
- Cited in: The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein… (PMID 17412732)