R631C (p.Arg631Cys) variant of CPT2 (P23786)
R631C (p.Arg631Cys) in CPT2 (P23786) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R631C (p.Arg631Cys) variant details
- p.Arg631Cys
- rs74315293
- ClinGen CA254604
- NCI-TCGA Cosmic COSV5376
- cosmic curated COSV53760
- Pathogenic
- Carnitine palmitoyl transferase II deficiency, myopathic form; Carnitine palmito
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.83
- CADD 28.50
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Pathogenic (Carnitine palmitoyl transferase II deficiency, myopathic form; C)
- EBI: Pathogenic (in CPT2DI and CPT2D)
- UniProt: Pathogenic (in CPT2DI and CPT2D)
- Most common in the East Asian population (allele frequency 0.00038)
- Structural context available
- Cited in: Molecular characterization of inherited carnitine palmitoyltransferase II deficiency. (PMID 1528846)
- Cited in: Functional analysis of iPSC-derived myocytes from a patient with carnitine palmitoyltransferase II deficiency. (PMID 24780397)