R63I (p.Arg63Ile) variant of CPT2 (P23786)
R63I (p.Arg63Ile) in CPT2 (P23786) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Carnitine palmitoyltransferase II deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
R63I (p.Arg63Ile) variant details
- p.Arg63Ile
- rs748182542
- ClinGen CA340389126
- ClinVar RCV001359188
- ExAC rs748182542
- Pathogenic
- Carnitine palmitoyltransferase II deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- AlphaMissense 0.93
- MetaLR 0.91
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: Pathogenic (Carnitine palmitoyltransferase II deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Carnitine Palmitoyltransferase II Deficiency. (PMID 20301431)
- Cited in: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and… (PMID 25173338)