Y361C (p.Tyr361Cys) variant of ETFDH (Q16134)
Y361C (p.Tyr361Cys) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Multiple acyl-CoA dehydrogenase deficiency; Glutaric acidemia type 2C. 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.
Y361C (p.Tyr361Cys) variant details
- p.Tyr361Cys
- rs2150312299
- ClinGen CA358562315
- ClinVar RCV001989535
- Ensembl rs2150312299
- Pathogenic/Likely pathogenic
- Multiple acyl-CoA dehydrogenase deficiency; Glutaric acidemia type 2C
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.90
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Multiple acyl-CoA dehydrogenase deficiency; Glutaric acidemia ty)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)