P18L (p.Pro18Leu) variant of CPT2 (P23786)
P18L (p.Pro18Leu) in CPT2 (P23786) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Encephalopathy, acute, infection-induced, susceptibility to, 4; Ca. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
P18L (p.Pro18Leu) variant details
- p.Pro18Leu
- rs1176581459
- ClinGen CA340388649
- ClinVar RCV001326527
- ClinVar RCV002274187
- Uncertain significance
- not provided; Encephalopathy, acute, infection-induced, susceptibility to, 4; Ca
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.17
- MetaLR 0.25
- MetaSVM -0.88
- CADD 7.45
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided; Encephalopathy, acute, infection-induced, suscepti)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.3e-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)