R151Q (p.Arg151Gln) variant of CPT2 (P23786)
R151Q (p.Arg151Gln) in CPT2 (P23786) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine. 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.
R151Q (p.Arg151Gln) variant details
- p.Arg151Gln
- rs515726177
- ClinGen CA347805
- ClinVar RCV000202567
- ClinVar RCV000492874
- Pathogenic/Likely pathogenic
- Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.87
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Carnitine palmitoyl transferase II deficiency, severe infantile)
- EBI: Pathogenic (in CPT2D)
- UniProt: Pathogenic (in CPT2D)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency. (PMID 14605500)
- Cited in: Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency. (PMID 9758712)