F448L (p.Phe448Leu) variant of CPT2 (P23786)
F448L (p.Phe448Leu) in CPT2 (P23786) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Carnitine palmitoyltransferase II deficiency; Carnitine palmitoyl transferase II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
F448L (p.Phe448Leu) variant details
- p.Phe448Leu
- rs74315297
- ClinGen CA245063
- ClinVar RCV000009520
- ClinVar RCV000178040
- Pathogenic
- Carnitine palmitoyltransferase II deficiency; Carnitine palmitoyl transferase II
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.95
- CADD 26.90
- PolyPhen-2 0.93
- SIFT 0.01
- ClinVar: Pathogenic (Carnitine palmitoyltransferase II deficiency; Carnitine palmitoy)
- EBI: Pathogenic (in CPT2D)
- UniProt: Pathogenic (in CPT2D)
- Most common in the Ashkenazi Jewish population (allele frequency 0.0043)
- Structural context available
- Cited in: Novel mutations associated with carnitine palmitoyltransferase II deficiency. (PMID 10090476)
- Cited in: Antenatal presentation of carnitine palmitoyltransferase II deficiency. (PMID 11477613)