A67G (p.Ala67Gly) variant of CPT2 (P23786)
A67G (p.Ala67Gly) in CPT2 (P23786) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Carnitine palmitoyl transferase II deficiency, severe infantile form; Encephalop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
A67G (p.Ala67Gly) variant details
- p.Ala67Gly
- rs201966320
- ClinGen CA858911
- ClinVar RCV001056378
- ClinVar RCV001593227
- Likely pathogenic
- Carnitine palmitoyl transferase II deficiency, severe infantile form; Encephalop
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.79
- MetaLR 0.87
- MetaSVM 0.89
- CADD 25.50
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Likely pathogenic (Carnitine palmitoyl transferase II deficiency, severe infantile)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- 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)