P50S (p.Pro50Ser) variant of CPT2 (P23786)
P50S (p.Pro50Ser) in CPT2 (P23786) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Carnitine palmitoyltransferase II deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
P50S (p.Pro50Ser) variant details
- p.Pro50Ser
- rs2525558524
- ClinGen CA340388850
- ClinVar RCV002988541
- Likely pathogenic
- Carnitine palmitoyltransferase II deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- REVEL 0.93
- MetaLR 0.96
- MetaSVM 1.10
- CADD 27.10
- PolyPhen-2 0.93
- SIFT 0.08
- ClinVar: Likely pathogenic (Carnitine palmitoyltransferase II deficiency)
- EBI: Likely pathogenic (in CPT2D)
- UniProt: Likely pathogenic (in CPT2D)
- Population evidence available
- 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)