V16F (p.Val16Phe) variant of CPT2 (P23786)
V16F (p.Val16Phe) 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 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
V16F (p.Val16Phe) variant details
- p.Val16Phe
- rs1469396631
- ClinGen CA340388634
- ClinVar RCV000796203
- gnomAD rs1469396631
- Uncertain significance
- Carnitine palmitoyltransferase II deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.16
- MetaLR 0.31
- MetaSVM -0.66
- CADD 0.23
- PolyPhen-2 0.00
- SIFT 0.81
- ClinVar: Uncertain significance (Carnitine palmitoyltransferase II deficiency)
- 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
- 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)