G381D (p.Gly381Asp) variant of ETFDH (Q16134)
G381D (p.Gly381Asp) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Multiple acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G381D (p.Gly381Asp) variant details
- p.Gly381Asp
- rs1774519367
- ClinGen CA358562759
- ClinVar RCV002603372
- ClinVar RCV006460456
- Conflicting interpretations
- not specified; Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- REVEL 0.95
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)