R12G (p.Arg12Gly) variant of CPT2 (P23786)
R12G (p.Arg12Gly) in CPT2 (P23786) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R12G (p.Arg12Gly) variant details
- p.Arg12Gly
- TOPMed rs1270720547
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.40
- MetaLR 0.33
- MetaSVM -0.81
- CADD 14.10
- PolyPhen-2 0.02
- SIFT 0.09
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.8e-05)
- Structural context available