N46S (p.Asn46Ser) variant of PTPN4 (P29074)
N46S (p.Asn46Ser) in PTPN4 (P29074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
N46S (p.Asn46Ser) variant details
- p.Asn46Ser
- rs1199991850
- ClinGen CA348188182
- ClinVar RCV002896465
- TOPMed rs1199991850
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.21
- MetaSVM -0.92
- CADD 18.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-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)