S26G (p.Ser26Gly) variant of CPT2 (P23786)
S26G (p.Ser26Gly) in CPT2 (P23786) is a missense change. Clinical records from ClinVar 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 0.30 / 1. The record also includes population frequency data and structural context.
S26G (p.Ser26Gly) variant details
- p.Ser26Gly
- TOPMed rs1329746613
- gnomAD rs1329746613
- Uncertain significance
- Carnitine palmitoyltransferase II deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.20
- MetaLR 0.31
- MetaSVM -0.60
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Uncertain significance (Carnitine palmitoyltransferase II deficiency)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available