I6M (p.Ile6Met) variant of CXCR4 (C-X-C chemokine receptor type 4)
I6M (p.Ile6Met) 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 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
I6M (p.Ile6Met) variant details
- p.Ile6Met
- gnomAD 2-136115910-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.11
- MetaLR 0.08
- MetaSVM -0.88
- CADD 10.20
- PolyPhen-2 0.20
- SIFT 0.09
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available