A215T (p.Ala215Thr) variant of ETFDH (Q16134)
A215T (p.Ala215Thr) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
A215T (p.Ala215Thr) variant details
- p.Ala215Thr
- rs755214552
- ClinGen CA3122422
- ClinVar RCV002651858
- ExAC rs755214552
- Pathogenic/Likely pathogenic
- Glutaric acidemia type 2C; Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.87
- CADD 28.30
- PolyPhen-2 0.91
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Glutaric acidemia type 2C; Multiple acyl-CoA dehydrogenase defic)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)