Y257C (p.Tyr257Cys) variant of ETFDH (Q16134)
Y257C (p.Tyr257Cys) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glutaric acidemia type 2C; Multiple acyl-CoA dehydrogenase deficiency; not provi. 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.
Y257C (p.Tyr257Cys) variant details
- p.Tyr257Cys
- rs780015493
- ClinGen CA3122444
- cosmic curated COSV10814
- ClinVar RCV000824611
- Uncertain significance
- Glutaric acidemia type 2C; Multiple acyl-CoA dehydrogenase deficiency; not provi
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.81
- CADD 25.90
- PolyPhen-2 0.49
- SIFT 0.05
- ClinVar: Uncertain significance (Myopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00077)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)