I6T (p.Ile6Thr) variant of CXCR4 (C-X-C chemokine receptor type 4)
I6T (p.Ile6Thr) 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.
I6T (p.Ile6Thr) variant details
- p.Ile6Thr
- TOPMed rs1684876088
- gnomAD rs1684876088
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.09
- MetaLR 0.11
- MetaSVM -0.95
- CADD 19.90
- PolyPhen-2 0.05
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available