F115L (p.Phe115Leu) variant of ETFA (P13804)
F115L (p.Phe115Leu) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
F115L (p.Phe115Leu) variant details
- p.Phe115Leu
- rs760557143
- ClinGen CA393516655
- ClinVar RCV002823822
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.62
- ESM-1b 1.00
- AlphaMissense 0.89
- CADD 16.50
- PolyPhen-2 0.24
- SIFT 0.06
- ClinVar: Uncertain significance (Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)