I502T (p.Ile502Thr) variant of CPT2 (P23786)
I502T (p.Ile502Thr) in CPT2 (P23786) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Carnitine palmitoyl transferase II deficiency, myopathic form; Carnitine palmito. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
I502T (p.Ile502Thr) variant details
- p.Ile502Thr
- rs1553169799
- ClinGen CA340396617
- ClinVar RCV000664606
- ClinVar RCV003581704
- Pathogenic/Likely pathogenic
- Carnitine palmitoyl transferase II deficiency, myopathic form; Carnitine palmito
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.88
- CADD 27.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Carnitine palmitoyl transferase II deficiency, myopathic form; C)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)