F383Y (p.Phe383Tyr) variant of CPT2 (P23786)
F383Y (p.Phe383Tyr) in CPT2 (P23786) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Carnitine palmitoyl transferase II deficiency, neonatal form; Carnitine palmitoy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
F383Y (p.Phe383Tyr) variant details
- p.Phe383Tyr
- rs74315295
- ClinGen CA254610
- ClinVar RCV000009517
- ClinVar RCV000009518
- Pathogenic/Likely pathogenic
- Carnitine palmitoyl transferase II deficiency, neonatal form; Carnitine palmitoy
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.76
- CADD 23.70
- PolyPhen-2 0.81
- SIFT 0.61
- ClinVar: Pathogenic/Likely pathogenic (Carnitine palmitoyl transferase II deficiency, neonatal form; Ca)
- EBI: Pathogenic (in CPT2D)
- UniProt: Pathogenic (in CPT2D)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: A Japanese adult form of CPT II deficiency associated with a homozygous F383Y mutation. (PMID 17709715)
- Cited in: Two novel gene mutations (Glu174-->Lys, Phe383-->Tyr) causing the "hepatic" form of carnitine palmitoyltransferase II… (PMID 8682496)