W10S (p.Trp10Ser) variant of CPT2 (P23786)
W10S (p.Trp10Ser) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
W10S (p.Trp10Ser) variant details
- p.Trp10Ser
- rs2525557943
- ClinGen CA340388600
- ClinVar RCV003019729
- Uncertain significance
- Carnitine palmitoyltransferase II deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.29
- MetaLR 0.36
- MetaSVM -0.70
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.44
- ClinVar: Uncertain significance (Carnitine palmitoyltransferase II deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.3e-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)