R23W (p.Arg23Trp) variant of CPT2 (P23786)
R23W (p.Arg23Trp) in CPT2 (P23786) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R23W (p.Arg23Trp) variant details
- p.Arg23Trp
- TOPMed rs1329055231
- gnomAD rs1329055231
- Uncertain significance
- Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.47
- MetaLR 0.35
- MetaSVM -0.53
- CADD 23.30
- PolyPhen-2 0.32
- SIFT 0.02
- ClinVar: Uncertain significance (Carnitine palmitoyl transferase II deficiency, severe infantile)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.7e-05)
- Structural context available