R5C (p.Arg5Cys) variant of CD19 (B-lymphocyte antigen CD19)
R5C (p.Arg5Cys) in CD19 (B-lymphocyte antigen CD19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
R5C (p.Arg5Cys) variant details
- p.Arg5Cys
- rs556457823
- ClinGen CA7988250
- NCI-TCGA Cosmic COSV6118
- cosmic curated COSV61189
- Conflicting interpretations
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.04
- MetaLR 0.04
- MetaSVM -1.02
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- 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)