H555Q (p.His555Gln) variant of CPT2 (P23786)
H555Q (p.His555Gln) in CPT2 (P23786) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Carnitine palmitoyltransferase II deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
H555Q (p.His555Gln) variant details
- p.His555Gln
- rs1557719450
- ClinGen CA340397396
- ClinVar RCV001248419
- Ensembl rs1557719450
- Pathogenic
- Carnitine palmitoyltransferase II deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.91
- CADD 22.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Carnitine palmitoyltransferase II deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 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)