G30W (p.Gly30Trp) variant of CPT2 (P23786)
G30W (p.Gly30Trp) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
G30W (p.Gly30Trp) variant details
- p.Gly30Trp
- rs937940197
- ClinGen CA340388715
- ClinVar RCV001295346
- TOPMed rs937940197
- Uncertain significance
- Carnitine palmitoyltransferase II deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.25
- MetaLR 0.39
- MetaSVM -0.40
- CADD 24.40
- PolyPhen-2 0.65
- SIFT 0.01
- 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)