V451L (p.Val451Leu) variant of ETFDH (Q16134)
V451L (p.Val451Leu) 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 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
V451L (p.Val451Leu) variant details
- p.Val451Leu
- rs558005496
- ClinGen CA312543
- ClinVar RCV001053110
- ClinVar RCV004791312
- Pathogenic/Likely pathogenic
- Glutaric acidemia type 2C; not provided; Multiple acyl-CoA dehydrogenase deficie
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.78
- CADD 23.40
- PolyPhen-2 0.17
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Glutaric acidemia type 2C; not provided; Multiple acyl-CoA dehyd)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)