V54M (p.Val54Met) variant of CXCR4 (C-X-C chemokine receptor type 4)
V54M (p.Val54Met) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
V54M (p.Val54Met) variant details
- p.Val54Met
- gnomAD 2-136115768-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.07
- MetaLR 0.08
- MetaSVM -0.99
- CADD 22.90
- PolyPhen-2 0.04
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available