I80T (p.Ile80Thr) variant of CD19 (B-lymphocyte antigen CD19)
I80T (p.Ile80Thr) 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 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
I80T (p.Ile80Thr) variant details
- p.Ile80Thr
- rs2506454776
- ClinGen CA395430083
- ClinVar RCV003268336
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.04
- MetaLR 0.06
- MetaSVM -1.03
- CADD 17.20
- PolyPhen-2 0.08
- SIFT 0.23
- ClinVar: Uncertain significance (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)