Y12C (p.Tyr12Cys) variant of CXCR4 (C-X-C chemokine receptor type 4)
Y12C (p.Tyr12Cys) 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 0.28 / 1. The record also includes population frequency data and structural context.
Y12C (p.Tyr12Cys) variant details
- p.Tyr12Cys
- TOPMed rs1684875253
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.12
- MetaLR 0.15
- MetaSVM -0.81
- CADD 23.10
- PolyPhen-2 0.16
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available