K56Q (p.Lys56Gln) variant of ETFB (P38117)
K56Q (p.Lys56Gln) 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 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
K56Q (p.Lys56Gln) variant details
- p.Lys56Gln
- rs757088247
- ClinGen CA9610849
- ClinVar RCV003105205
- ClinVar RCV004244558
- Uncertain significance
- Inborn genetic diseases; Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.45
- CADD 23.30
- PolyPhen-2 0.21
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases; Multiple acyl-CoA dehydrogenase deficie)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- 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)