R296Q (p.Arg296Gln) variant of CPT2 (P23786)
R296Q (p.Arg296Gln) in CPT2 (P23786) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Carnitine palmitoyl transferase II deficiency, myopathic form; Car. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
R296Q (p.Arg296Gln) variant details
- p.Arg296Gln
- rs764849762
- ClinGen CA859072
- ClinVar RCV001208697
- ClinVar RCV001810496
- Conflicting interpretations
- not provided; Carnitine palmitoyl transferase II deficiency, myopathic form; Car
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- REVEL 0.96
- AlphaMissense 0.98
- MetaLR 0.97
- MetaSVM 1.09
- CADD 29.70
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Carnitine palmitoyl transferase II deficiency, myo)
- EBI: Pathogenic (in CPT2D)
- UniProt: Pathogenic (in CPT2D)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency. (PMID 14605500)
- Cited in: Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review. (PMID 14615409)