F144S (p.Phe144Ser) variant of ETFA (P13804)
F144S (p.Phe144Ser) in ETFA (P13804) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided; Multiple acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
F144S (p.Phe144Ser) variant details
- p.Phe144Ser
- rs755055339
- ClinGen CA7673765
- ClinVar RCV001340865
- ClinVar RCV001751667
- Uncertain significance
- not specified; not provided; Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; not provided; Multiple acyl-CoA dehydrogenase def)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)