Y7H (p.Tyr7His) variant of CXCR4 (C-X-C chemokine receptor type 4)
Y7H (p.Tyr7His) in CXCR4 (C-X-C chemokine receptor type 4) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
Y7H (p.Tyr7His) variant details
- p.Tyr7His
- rs560844176
- ClinGen CA56886593
- cosmic curated COSV54018
- ClinVar RCV001210821
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.03
- MetaLR 0.08
- MetaSVM -1.05
- CADD 15.50
- PolyPhen-2 0.19
- SIFT 0.21
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available