R11Q (p.Arg11Gln) variant of ETFA (P13804)
R11Q (p.Arg11Gln) in ETFA (P13804) 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 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R11Q (p.Arg11Gln) variant details
- p.Arg11Gln
- rs1235326434
- ClinGen CA393519527
- ClinVar RCV003066888
- TOPMed rs1235326434
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.23
- CADD 21.70
- PolyPhen-2 0.01
- SIFT 0.07
- ClinVar: Uncertain significance (Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00055)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)