P571T (p.Pro571Thr) variant of CPT2 (P23786)
P571T (p.Pro571Thr) in CPT2 (P23786) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Carnitine palmitoyltransferase II deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
P571T (p.Pro571Thr) variant details
- p.Pro571Thr
- rs1287533399
- ClinGen CA340397490
- ClinVar RCV002267554
- ClinVar RCV004801181
- Pathogenic
- Carnitine palmitoyltransferase II deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- AlphaMissense 0.40
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 0.99
- SIFT 0.10
- EVE 0.61
- ClinVar: Pathogenic (Carnitine palmitoyltransferase II deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)