R151W (p.Arg151Trp) variant of CPT2 (P23786)
R151W (p.Arg151Trp) 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; Encephalopathy, a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R151W (p.Arg151Trp) variant details
- p.Arg151Trp
- rs200080591
- ClinGen CA858991
- ClinVar RCV001904234
- ClinVar RCV003452000
- Pathogenic
- Carnitine palmitoyl transferase II deficiency, myopathic form; Encephalopathy, a
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.88
- CADD 23.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Carnitine palmitoyl transferase II deficiency, myopathic form; E)
- EBI: Pathogenic (in CPT2D)
- UniProt: Pathogenic (in CPT2D)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00028)
- 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)