Q33H (p.Gln33His) variant of CPT2 (P23786)
Q33H (p.Gln33His) in CPT2 (P23786) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Carnitine palmitoyl transferase II deficiency, myopathic form; Encephalopathy, a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
Q33H (p.Gln33His) variant details
- p.Gln33His
- rs1196469539
- ClinGen CA340388738
- ClinVar RCV000671810
- ClinVar RCV001861808
- Uncertain significance
- Carnitine palmitoyl transferase II deficiency, myopathic form; Encephalopathy, a
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.15
- MetaLR 0.29
- MetaSVM -0.79
- CADD 21.00
- PolyPhen-2 0.01
- SIFT 0.19
- ClinVar: Uncertain significance (Carnitine palmitoyl transferase II deficiency, myopathic form; E)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.4e-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)