E27K (p.Glu27Lys) variant of ETFA (P13804)
E27K (p.Glu27Lys) 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 0.89 / 1. The record also includes published literature and structural context.
E27K (p.Glu27Lys) variant details
- p.Glu27Lys
- rs2141543849
- ClinGen CA393518001
- ClinVar RCV001991552
- Ensembl rs2141543849
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.87
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- 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)