I44V (p.Ile44Val) variant of CXCR4 (C-X-C chemokine receptor type 4)
I44V (p.Ile44Val) 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.
I44V (p.Ile44Val) variant details
- p.Ile44Val
- TOPMed rs1267066087
- gnomAD rs1267066087
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.02
- MetaLR 0.03
- MetaSVM -1.06
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available