A83T (p.Ala83Thr) variant of ETFB (P38117)
A83T (p.Ala83Thr) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
A83T (p.Ala83Thr) variant details
- p.Ala83Thr
- rs1352787179
- ClinGen CA407082700
- ClinVar RCV002011512
- ClinVar RCV004616959
- Uncertain significance
- Inborn genetic diseases; Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.87
- CADD 26.90
- PolyPhen-2 0.96
- 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 Latino/Admixed American population (allele frequency 4.5e-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)