N33I (p.Asn33Ile) variant of CXCR4 (C-X-C chemokine receptor type 4)
N33I (p.Asn33Ile) 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 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
N33I (p.Asn33Ile) variant details
- p.Asn33Ile
- rs1230454603
- ClinGen CA348660132
- ClinVar RCV004367602
- TOPMed rs1230454603
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.08
- MetaLR 0.09
- MetaSVM -1.10
- CADD 25.10
- PolyPhen-2 0.04
- SIFT 0.32
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- 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)