Y553H (p.Tyr553His) variant of ETFDH (Q16134)
Y553H (p.Tyr553His) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
Y553H (p.Tyr553His) variant details
- p.Tyr553His
- rs182913453
- ClinGen CA3122680
- ClinVar RCV002027116
- 1000Genomes rs182913453
- Likely pathogenic
- Glutaric acidemia type 2C; Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.85
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Glutaric acidemia type 2C; Multiple acyl-CoA dehydrogenase defic)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)