R51Q (p.Arg51Gln) variant of ETFB (P38117)
R51Q (p.Arg51Gln) in ETFB (P38117) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Multiple acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R51Q (p.Arg51Gln) variant details
- p.Arg51Gln
- rs1402136329
- ClinGen CA407083211
- NCI-TCGA Cosmic COSV1004
- cosmic curated COSV10049
- Uncertain significance
- Inborn genetic diseases; Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.53
- CADD 28.60
- PolyPhen-2 0.74
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Multiple acyl-CoA dehydrogenase deficie)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)