E2G (p.Glu2Gly) variant of CXCR4 (C-X-C chemokine receptor type 4)
E2G (p.Glu2Gly) 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 and structural context.
E2G (p.Glu2Gly) variant details
- p.Glu2Gly
- rs1226785105
- ClinGen CA348660418
- ClinVar RCV002833797
- gnomAD rs1226785105
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.08
- MetaLR 0.10
- MetaSVM -1.00
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:HAN population (allele frequency 0.016)
- Structural context available