D328G (p.Asp328Gly) variant of CPT2 (P23786)
D328G (p.Asp328Gly) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
D328G (p.Asp328Gly) variant details
- p.Asp328Gly
- rs515726175
- ClinGen CA347758
- ClinVar RCV000202505
- gnomAD rs515726175
- Likely pathogenic
- Carnitine palmitoyltransferase II deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.98
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Carnitine palmitoyltransferase II deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-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)