S47G (p.Ser47Gly) variant of PTPRC (P08575)
S47G (p.Ser47Gly) in PTPRC (P08575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Immunodeficiency 104. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
S47G (p.Ser47Gly) variant details
- p.Ser47Gly
- rs149488488
- ClinGen CA1314415
- ClinVar RCV001340251
- ClinVar RCV003346491
- Conflicting interpretations
- Inborn genetic diseases; Immunodeficiency 104
- Missense
- Variant Prioritization Score for Impact Estimate 0.0904
- REVEL 0.11
- CADD 0.54
- PolyPhen-2 0.00
- SIFT 0.32
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Immunodeficiency 104)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)