S22N (p.Ser22Asn) variant of CPT2 (P23786)
S22N (p.Ser22Asn) in CPT2 (P23786) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Encephalopathy, acute, infection-induced, susceptibilit. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
S22N (p.Ser22Asn) variant details
- p.Ser22Asn
- rs1057287341
- ClinGen CA22626403
- ClinVar RCV001213145
- ClinVar RCV002491653
- Uncertain significance
- Inborn genetic diseases; Encephalopathy, acute, infection-induced, susceptibilit
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.16
- MetaLR 0.37
- MetaSVM -0.77
- CADD 16.70
- PolyPhen-2 0.02
- SIFT 0.52
- ClinVar: Uncertain significance (Inborn genetic diseases; Encephalopathy, acute, infection-induce)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 8.5e-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)