R124Q (p.Arg124Gln) variant of CPT2 (P23786)
R124Q (p.Arg124Gln) 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 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R124Q (p.Arg124Gln) variant details
- p.Arg124Gln
- rs1131691925
- ClinGen CA340391890
- NCI-TCGA Cosmic COSV9959
- cosmic curated COSV99598
- Likely pathogenic
- Carnitine palmitoyltransferase II deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- REVEL 0.97
- AlphaMissense 0.96
- MetaLR 0.93
- MetaSVM 1.06
- CADD 28.10
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Carnitine palmitoyltransferase II deficiency)
- EBI: Likely pathogenic
- UniProt: Likely 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)