L44P (p.Leu44Pro) variant of TNFRSF13B (O14836)
L44P (p.Leu44Pro) 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 0.46 / 1. The record also includes population frequency data and published literature.
L44P (p.Leu44Pro) variant details
- p.Leu44Pro
- rs1485786201
- ClinGen CA398520424
- ClinVar RCV002667237
- ClinVar RCV005288791
- Uncertain significance
- Immunodeficiency, common variable, 2; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.54
- CADD 22.80
- PolyPhen-2 0.99
- 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 1KG:MSL population (allele frequency 0.013)
- 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)