R23G (p.Arg23Gly) variant of CPT2 (P23786)
R23G (p.Arg23Gly) in CPT2 (P23786) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Carnitine palmitoyltransferase II deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R23G (p.Arg23Gly) variant details
- p.Arg23Gly
- rs1329055231
- ClinGen CA340388671
- ClinVar RCV001876471
- TOPMed rs1329055231
- Uncertain significance
- Carnitine palmitoyltransferase II deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.47
- MetaLR 0.37
- MetaSVM -0.61
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Uncertain significance (Carnitine palmitoyltransferase II deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- 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)