W10* (p.Trp10Ter) variant of CPT2 (P23786)
W10* (p.Trp10Ter) in CPT2 (P23786) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
W10* (p.Trp10Ter) variant details
- p.Trp10Ter
- rs1374482155
- ClinGen CA522907745
- ClinVar RCV001386849
- ClinVar RCV001780356
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.607
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)