G600R (p.Gly600Arg) variant of CPT2 (P23786)
G600R (p.Gly600Arg) in CPT2 (P23786) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Carnitine palmitoyltransferase II deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
G600R (p.Gly600Arg) variant details
- p.Gly600Arg
- rs1645443101
- ClinGen CA340397675
- ClinVar RCV001939674
- UniProt VAR 020544
- Pathogenic
- Carnitine palmitoyltransferase II deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.942
- AlphaMissense 0.96
- MetaLR 0.96
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Pathogenic (Carnitine palmitoyltransferase II deficiency)
- EBI: Pathogenic (in CPT2D)
- UniProt: Pathogenic (in CPT2D)
- Structural context available
- Cited in: Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency. (PMID 14605500)
- Cited in: Novel mutations associated with carnitine palmitoyltransferase II deficiency. (PMID 10090476)