Q269E (p.Gln269Glu) variant of ETFDH (Q16134)
Q269E (p.Gln269Glu) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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.
Q269E (p.Gln269Glu) variant details
- p.Gln269Glu
- rs1580411897
- ClinGen CA358560939
- ClinVar RCV000816683
- Ensembl rs1580411897
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.76
- CADD 24.20
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Uncertain significance (Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)