G345R (p.Gly345Arg) variant of CPT2 (P23786)
G345R (p.Gly345Arg) in CPT2 (P23786) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Carnitine palmitoyl transferase II deficiency, neonatal form. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
G345R (p.Gly345Arg) variant details
- p.Gly345Arg
- rs771214714
- ClinGen CA340394369
- ClinVar RCV001030040
- ExAC rs771214714
- Likely pathogenic
- Carnitine palmitoyl transferase II deficiency, neonatal form
- Missense
- Variant Prioritization Score for Impact Estimate 0.927
- AlphaMissense 0.87
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: Likely pathogenic (Carnitine palmitoyl transferase II deficiency, neonatal form)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Carnitine Palmitoyltransferase II Deficiency. (PMID 20301431)