Y120C (p.Tyr120Cys) variant of CPT2 (P23786)
Y120C (p.Tyr120Cys) in CPT2 (P23786) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of CPT2-related disorder; Encephalopathy, acute, infection-induced, susceptibility. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
Y120C (p.Tyr120Cys) variant details
- p.Tyr120Cys
- rs121918528
- ClinGen CA254616
- ClinVar RCV000009530
- ClinVar RCV000202546
- Pathogenic/Likely pathogenic
- CPT2-related disorder; Encephalopathy, acute, infection-induced, susceptibility
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.98
- CADD 28.80
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (CPT2-related disorder; Encephalopathy, acute, infection-induced,)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.00052)
- Structural context available
- Cited in: CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency. (PMID 18550408)
- Cited in: Carnitine Palmitoyltransferase II Deficiency. (PMID 20301431)