R54W (p.Arg54Trp) variant of CD19 (B-lymphocyte antigen CD19)
R54W (p.Arg54Trp) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
R54W (p.Arg54Trp) variant details
- p.Arg54Trp
- rs758662669
- ClinGen CA7988298
- NCI-TCGA Cosmic COSV6118
- cosmic curated COSV61188
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.05
- MetaLR 0.02
- MetaSVM -0.99
- CADD 18.10
- PolyPhen-2 0.05
- SIFT 0.14
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)