S42I (p.Ser42Ile) variant of PTPRC (P08575)
S42I (p.Ser42Ile) in PTPRC (P08575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Immunodeficiency 104. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes published literature and structural context.
S42I (p.Ser42Ile) variant details
- p.Ser42Ile
- rs1159457079
- ClinGen CA344096733
- ClinVar RCV000801394
- ClinVar RCV006367348
- Uncertain significance
- Inborn genetic diseases; Immunodeficiency 104
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- AlphaMissense 0.13
- MetaLR 0.01
- MetaSVM -1.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Immunodeficiency 104)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)