G30R (p.Gly30Arg) variant of CPT2 (P23786)
G30R (p.Gly30Arg) 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 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
G30R (p.Gly30Arg) variant details
- p.Gly30Arg
- rs937940197
- ClinGen CA340388714
- ClinVar RCV001913293
- TOPMed rs937940197
- Uncertain significance
- Carnitine palmitoyltransferase II deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.13
- MetaLR 0.28
- MetaSVM -0.87
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 0.53
- 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 1.9e-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)