P227L (p.Pro227Leu) variant of CPT2 (P23786)
P227L (p.Pro227Leu) in CPT2 (P23786) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Encephalopathy, acute, infection-induced, susceptibility to, 4; Carnitine palmit. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
P227L (p.Pro227Leu) variant details
- p.Pro227Leu
- rs74315298
- ClinGen CA254612
- ClinVar RCV000009526
- ClinVar RCV000185840
- Pathogenic/Likely pathogenic
- Encephalopathy, acute, infection-induced, susceptibility to, 4; Carnitine palmit
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- REVEL 0.98
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Encephalopathy, acute, infection-induced, susceptibility to, 4;)
- EBI: Pathogenic (in CPT2D)
- UniProt: Pathogenic (in CPT2D)
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available
- Cited in: CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency. (PMID 18550408)
- Cited in: Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency. (PMID 9758712)