Y7C (p.Tyr7Cys) variant of CXCR4 (C-X-C chemokine receptor type 4)
Y7C (p.Tyr7Cys) in CXCR4 (C-X-C chemokine receptor type 4) is a missense change. 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.
Y7C (p.Tyr7Cys) variant details
- p.Tyr7Cys
- cosmic curated COSV10959
- ExAC rs770986091
- gnomAD rs770986091
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.14
- MetaLR 0.13
- MetaSVM -1.00
- CADD 19.90
- PolyPhen-2 0.46
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available