Y479C (p.Tyr479Cys) variant of CPT2 (P23786)
Y479C (p.Tyr479Cys) 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; Encephalopathy, ac. 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.
Y479C (p.Tyr479Cys) variant details
- p.Tyr479Cys
- rs749895856
- ClinGen CA340395845
- ClinVar RCV001379072
- ClinVar RCV004570933
- Pathogenic/Likely pathogenic
- Carnitine palmitoyl transferase II deficiency, neonatal form; Encephalopathy, ac
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.85
- CADD 23.00
- PolyPhen-2 0.09
- SIFT 0.06
- ClinVar: Pathogenic/Likely pathogenic (Carnitine palmitoyl transferase II deficiency, neonatal form; En)
- EBI: Pathogenic (in CPT2D)
- UniProt: Pathogenic (in CPT2D)
- 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)