S49F (p.Ser49Phe) variant of TNFRSF13B (O14836)
S49F (p.Ser49Phe) in TNFRSF13B (O14836) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency, common variable, 2; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
S49F (p.Ser49Phe) variant details
- p.Ser49Phe
- rs1013908503
- ClinGen CA288291027
- ClinVar RCV002770126
- ClinVar RCV004064662
- Uncertain significance
- Immunodeficiency, common variable, 2; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- REVEL 0.70
- CADD 22.60
- PolyPhen-2 0.69
- SIFT 0.00
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 2; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)