G19E (p.Gly19Glu) variant of CPT2 (P23786)
G19E (p.Gly19Glu) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
G19E (p.Gly19Glu) variant details
- p.Gly19Glu
- rs938409577
- ClinGen CA22626396
- ClinVar RCV000803510
- gnomAD rs938409577
- Uncertain significance
- Carnitine palmitoyltransferase II deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.14
- MetaLR 0.32
- MetaSVM -0.86
- CADD 16.00
- PolyPhen-2 0.02
- SIFT 0.27
- ClinVar: Uncertain significance (Carnitine palmitoyltransferase II deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- 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)