P504L (p.Pro504Leu) variant of CPT2 (P23786)
P504L (p.Pro504Leu) in CPT2 (P23786) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal recessive CPT2-related disorders; Carnitine palmitoyltransferase II de. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
P504L (p.Pro504Leu) variant details
- p.Pro504Leu
- rs368311455
- ClinGen CA312430
- cosmic curated COSV53758
- ClinVar RCV000778986
- Pathogenic/Likely pathogenic
- Autosomal recessive CPT2-related disorders; Carnitine palmitoyltransferase II de
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.88
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive CPT2-related disorders; Carnitine palmitoylt)
- EBI: Pathogenic (in a patient with IIAE4)
- UniProt: Pathogenic (in a patient with IIAE4)
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel… (PMID 18306170)
- Cited in: Carnitine Palmitoyltransferase II Deficiency. (PMID 20301431)