R164Q (p.Arg164Gln) variant of ETFB (P38117)
R164Q (p.Arg164Gln) in ETFB (P38117) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Multiple acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R164Q (p.Arg164Gln) variant details
- p.Arg164Gln
- rs104894677
- ClinGen CA126841
- NCI-TCGA Cosmic COSV1001
- Pathogenic/Likely pathogenic
- not provided; Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.89
- CADD 28.30
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Pathogenic (in GA2B)
- UniProt: Pathogenic (in GA2B)
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available
- Cited in: Mutations and polymorphisms of the gene encoding the beta-subunit of the electron transfer flavoprotein in three… (PMID 7912128)
- Cited in: Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation… (PMID 12815589)