P89S (p.Pro89Ser) variant of ETFA (P13804)
P89S (p.Pro89Ser) in ETFA (P13804) 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 0.54 / 1. The record also includes published literature and structural context.
P89S (p.Pro89Ser) variant details
- p.Pro89Ser
- rs2039778041
- ClinGen CA393517163
- ClinVar RCV001313856
- Ensembl rs2039778041
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- ESM-1b 0.27
- AlphaMissense 0.33
- MetaLR 0.73
- MetaSVM 0.47
- PolyPhen-2 0.98
- SIFT 0.08
- 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)