S44N (p.Ser44Asn) variant of SLC25A20 (O43772)
S44N (p.Ser44Asn) 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 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
S44N (p.Ser44Asn) variant details
- p.Ser44Asn
- rs2083881740
- ClinGen CA352637616
- ClinVar RCV003058275
- Ensembl rs2083881740
- Uncertain significance
- Carnitine acylcarnitine translocase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.11
- MetaLR 0.29
- MetaSVM -0.77
- CADD 15.40
- PolyPhen-2 0.14
- SIFT 0.20
- ClinVar: Uncertain significance (Carnitine acylcarnitine translocase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Carnitine-Acylcarnitine Translocase Deficiency. (PMID 35862567)