D213A (p.Asp213Ala) variant of CPT2 (P23786)
D213A (p.Asp213Ala) in CPT2 (P23786) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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 population frequency data, published literature, and structural context.
D213A (p.Asp213Ala) variant details
- p.Asp213Ala
- rs74315300
- ClinGen CA340393017
- ClinVar RCV003740855
- TOPMed rs74315300
- Likely pathogenic
- Carnitine palmitoyltransferase II deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.88
- AlphaMissense 0.97
- MetaLR 0.88
- MetaSVM 0.90
- CADD 28.50
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Carnitine palmitoyltransferase II deficiency)
- EBI: Pathogenic (in CPT2D)
- UniProt: Pathogenic (in CPT2D)
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)