D553N (p.Asp553Asn) variant of CPT2 (P23786)
D553N (p.Asp553Asn) in CPT2 (P23786) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Carnitine palmitoyltransferase II deficiency. 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.
D553N (p.Asp553Asn) variant details
- p.Asp553Asn
- rs28936376
- ClinGen CA254607
- ClinVar RCV000009513
- ClinVar RCV000675130
- Likely pathogenic
- Carnitine palmitoyltransferase II deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.85
- CADD 31.00
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Likely pathogenic (Carnitine palmitoyltransferase II deficiency)
- EBI: Pathogenic (in CPT2D)
- UniProt: Pathogenic (in CPT2D)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing… (PMID 7711730)
- Cited in: Carnitine Palmitoyltransferase II Deficiency. (PMID 20301431)