S22C (p.Ser22Cys) variant of CPT2 (P23786)
S22C (p.Ser22Cys) in CPT2 (P23786) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature and structural context.
S22C (p.Ser22Cys) variant details
- p.Ser22Cys
- rs1645327051
- ClinGen CA340388665
- ClinVar RCV002875383
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- AlphaMissense 0.10
- MetaLR 0.27
- MetaSVM -0.80
- PolyPhen-2 0.00
- SIFT 0.65
- MutPred 0.32
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)