G86V (p.Gly86Val) variant of ETFB (P38117)
G86V (p.Gly86Val) 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 0.39 / 1. The record also includes published literature and structural context.
G86V (p.Gly86Val) variant details
- p.Gly86Val
- rs143568332
- ClinGen CA407082663
- ClinVar RCV003003194
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- AlphaMissense 0.37
- MetaLR 0.34
- MetaSVM -0.43
- PolyPhen-2 0.66
- SIFT 0.41
- EVE 0.09
- 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)