V18L (p.Val18Leu) variant of ETFB (P38117)
V18L (p.Val18Leu) in ETFB (P38117) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Multiple acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
V18L (p.Val18Leu) variant details
- p.Val18Leu
- rs1986364163
- ClinGen CA407087135
- ClinVar RCV002819796
- TOPMed rs1986364163
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- AlphaMissense 0.88
- MetaLR 0.52
- MetaSVM -0.04
- PolyPhen-2 0.16
- SIFT 0.01
- EVE 0.55
- ClinVar: Uncertain significance (Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)