I87V (p.Ile87Val) variant of ETFB (P38117)
I87V (p.Ile87Val) 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.
I87V (p.Ile87Val) variant details
- p.Ile87Val
- rs2123587270
- ClinGen CA407082658
- ClinVar RCV001871140
- Ensembl rs2123587270
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- AlphaMissense 0.16
- MetaLR 0.39
- MetaSVM -0.43
- PolyPhen-2 0.05
- SIFT 0.24
- EVE 0.17
- 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)