R503C (p.Arg503Cys) variant of CPT2 (P23786)
R503C (p.Arg503Cys) in CPT2 (P23786) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of CPT2-related disorder; Carnitine palmitoyl transferase II deficiency, severe inf. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R503C (p.Arg503Cys) variant details
- p.Arg503Cys
- rs74315296
- ClinGen CA120021
- ClinVar RCV000009519
- ClinVar RCV000202513
- Pathogenic/Likely pathogenic
- CPT2-related disorder; Carnitine palmitoyl transferase II deficiency, severe inf
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.97
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (CPT2-related disorder; Carnitine palmitoyl transferase II defici)
- EBI: Pathogenic (in CPT2D)
- UniProt: Pathogenic (in CPT2D)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Novel mutations associated with carnitine palmitoyltransferase II deficiency. (PMID 10090476)
- Cited in: A variable myopathy associated with heterozygosity for the R503C mutation in the carnitine palmitoyltransferase II gene. (PMID 10873395)