V174A (p.Val174Ala) variant of ETFDH (Q16134)
V174A (p.Val174Ala) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Multiple acyl-CoA dehydrogenase deficiency; Glutaric acidemia type 2C. The record also includes variant effect predictions, published literature, and structural context.
V174A (p.Val174Ala) variant details
- p.Val174Ala
- rs1244950045
- ClinVar RCV004576416
- gnomAD rs1244950045
- Likely pathogenic
- Multiple acyl-CoA dehydrogenase deficiency; Glutaric acidemia type 2C
- Missense
- MutPred 0.67
- ClinVar: Likely pathogenic (Multiple acyl-CoA dehydrogenase deficiency; Glutaric acidemia ty)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)