T47I (p.Thr47Ile) variant of CD19 (B-lymphocyte antigen CD19)
T47I (p.Thr47Ile) in CD19 (B-lymphocyte antigen CD19) 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 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
T47I (p.Thr47Ile) variant details
- p.Thr47Ile
- rs375965055
- ClinGen CA7988293
- ClinVar RCV004433256
- ESP rs375965055
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.102
- REVEL 0.02
- MetaLR 0.02
- MetaSVM -0.96
- CADD 6.94
- PolyPhen-2 0.04
- SIFT 0.17
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- 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)