G30E (p.Gly30Glu) variant of CPT2 (P23786)
G30E (p.Gly30Glu) in CPT2 (P23786) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Carnitine palmitoyltransferase II deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
G30E (p.Gly30Glu) variant details
- p.Gly30Glu
- rs1572378353
- ClinGen CA340388716
- ClinVar RCV001313915
- Ensembl rs1572378353
- Uncertain significance
- Carnitine palmitoyltransferase II deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.17
- MetaLR 0.27
- MetaSVM -0.80
- CADD 14.50
- PolyPhen-2 0.00
- SIFT 0.94
- ClinVar: Uncertain significance (Carnitine palmitoyltransferase II deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)