Y628S (p.Tyr628Ser) variant of CPT2 (P23786)
Y628S (p.Tyr628Ser) 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 0.77 / 1. The record also includes published literature and structural context.
Y628S (p.Tyr628Ser) variant details
- p.Tyr628Ser
- rs28936673
- ClinGen CA254608
- ClinVar RCV000009514
- ClinVar RCV000202449
- Pathogenic/Likely pathogenic
- Carnitine palmitoyl transferase II deficiency, myopathic form; Carnitine palmito
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- AlphaMissense 0.36
- MetaLR 0.92
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.04
- EVE 0.66
- ClinVar: Pathogenic/Likely pathogenic (Carnitine palmitoyl transferase II deficiency, myopathic form; C)
- EBI: Pathogenic (in CPT2DI)
- UniProt: Pathogenic (in CPT2DI)
- Structural context available
- Cited in: Molecular analysis in Spanish patients with muscle carnitine palmitoyltransferase deficiency. (PMID 10398215)
- Cited in: Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death.… (PMID 1999498)