R18Q (p.Arg18Gln) variant of ETFA (P13804)
R18Q (p.Arg18Gln) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R18Q (p.Arg18Gln) variant details
- p.Arg18Gln
- rs766942384
- ClinGen CA7673865
- NCI-TCGA Cosmic COSV5121
- ClinVar RCV002610473
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.40
- ESM-1b 1.00
- AlphaMissense 0.47
- CADD 25.10
- PolyPhen-2 0.98
- 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 2.3e-05)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)