D596N (p.Asp596Asn) variant of ETFDH (Q16134)
D596N (p.Asp596Asn) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Multiple acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
D596N (p.Asp596Asn) variant details
- p.Asp596Asn
- rs1165102742
- ClinGen CA358566765
- ClinVar RCV001994364
- gnomAD rs1165102742
- Likely pathogenic
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.71
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (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)