D130V (p.Asp130Val) variant of ETFDH (Q16134)
D130V (p.Asp130Val) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
D130V (p.Asp130Val) variant details
- p.Asp130Val
- rs199899494
- ClinGen CA3122330
- ClinVar RCV000813251
- 1000Genomes rs199899494
- Pathogenic
- Glutaric acidemia type 2C; Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.97
- CADD 28.70
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Pathogenic (Glutaric acidemia type 2C; Multiple acyl-CoA dehydrogenase defic)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)