F56S (p.Phe56Ser) variant of SLC25A20 (O43772)
F56S (p.Phe56Ser) in SLC25A20 (O43772) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Carnitine acylcarnitine translocase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
F56S (p.Phe56Ser) variant details
- p.Phe56Ser
- rs1216285427
- ClinGen CA352637472
- ClinVar RCV001209702
- gnomAD rs1216285427
- Uncertain significance
- Carnitine acylcarnitine translocase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.70
- MetaLR 0.49
- MetaSVM -0.10
- CADD 24.60
- PolyPhen-2 0.25
- SIFT 0.01
- ClinVar: Uncertain significance (Carnitine acylcarnitine translocase deficiency)
- 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: Carnitine-Acylcarnitine Translocase Deficiency. (PMID 35862567)