R30H (p.Arg30His) variant of CXCR4 (C-X-C chemokine receptor type 4)
R30H (p.Arg30His) 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 and structural context.
R30H (p.Arg30His) variant details
- p.Arg30His
- rs923351521
- ClinGen CA56886585
- cosmic curated COSV54013
- ClinVar RCV003628842
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.13
- MetaLR 0.06
- MetaSVM -1.04
- CADD 20.30
- PolyPhen-2 0.45
- SIFT 0.39
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available