N37S (p.Asn37Ser) variant of CXCR4 (C-X-C chemokine receptor type 4)
N37S (p.Asn37Ser) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
N37S (p.Asn37Ser) variant details
- p.Asn37Ser
- rs749938835
- ClinGen CA1890157
- ClinVar RCV002010777
- ClinVar RCV005542672
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.06
- MetaLR 0.06
- MetaSVM -1.10
- CADD 22.70
- PolyPhen-2 0.03
- SIFT 0.12
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- 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)