W10C (p.Trp10Cys) variant of CPT2 (P23786)
W10C (p.Trp10Cys) in CPT2 (P23786) is a missense change. Clinical records from ClinVar, EBI, 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
W10C (p.Trp10Cys) variant details
- p.Trp10Cys
- rs947016530
- TOPMed rs947016530
- gnomAD rs947016530
- ClinGen CA340388603
- Uncertain significance
- Carnitine palmitoyltransferase II deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.34
- MetaLR 0.34
- MetaSVM -0.50
- CADD 22.80
- PolyPhen-2 0.12
- SIFT 0.09
- ClinVar: Uncertain significance (Carnitine palmitoyltransferase II deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Carnitine Palmitoyltransferase II Deficiency. (PMID 20301431)
- Cited in: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and… (PMID 25173338)