S46C (p.Ser46Cys) variant of CXCR4 (C-X-C chemokine receptor type 4)
S46C (p.Ser46Cys) in CXCR4 (C-X-C chemokine receptor type 4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S46C (p.Ser46Cys) variant details
- p.Ser46Cys
- rs147467366
- ClinGen CA1890155
- ClinVar RCV001819628
- ClinVar RCV001869705
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.09
- MetaLR 0.10
- MetaSVM -1.02
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.13
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- 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)