S113L (p.Ser113Leu) variant of CPT2 (P23786)
S113L (p.Ser113Leu) in CPT2 (P23786) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Carnitine palmitoyl transferase II deficiency, myopathic form; Carnitine palmito. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
S113L (p.Ser113Leu) variant details
- p.Ser113Leu
- rs74315294
- ClinGen CA254605
- cosmic curated COSV65186
- ClinVar RCV000009510
- Pathogenic/Likely pathogenic
- Carnitine palmitoyl transferase II deficiency, myopathic form; Carnitine palmito
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 0.89
- MetaLR 0.90
- MetaSVM 0.98
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.04
- ClinVar: Pathogenic/Likely pathogenic (Carnitine palmitoyl transferase II deficiency, myopathic form; C)
- EBI: Pathogenic (in CPT2D)
- UniProt: Pathogenic (in CPT2D)
- Most common in the HGDP:MOZABITE population (allele frequency 0.02)
- Structural context available
- Cited in: Molecular analysis in Spanish patients with muscle carnitine palmitoyltransferase deficiency. (PMID 10398215)
- Cited in: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID 15489334)