V8I (p.Val8Ile) variant of ETFB (P38117)
V8I (p.Val8Ile) in ETFB (P38117) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Multiple acyl-CoA dehydrogenase deficiency; Inborn genetic disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
V8I (p.Val8Ile) variant details
- p.Val8Ile
- rs531136177
- ClinGen CA9610959
- ClinVar RCV001932399
- ClinVar RCV002550998
- Uncertain significance
- not provided; Multiple acyl-CoA dehydrogenase deficiency; Inborn genetic disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.62
- CADD 27.00
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Multiple acyl-CoA dehydrogenase deficiency; Inborn)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- 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)