I4V (p.Ile4Val) variant of CXCR4 (C-X-C chemokine receptor type 4)
I4V (p.Ile4Val) in CXCR4 (C-X-C chemokine receptor type 4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes structural context.
I4V (p.Ile4Val) variant details
- p.Ile4Val
- rs2104922432
- ClinGen CA348660407
- ClinVar RCV001968622
- Ensembl rs2104922432
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- AlphaMissense 0.08
- MetaLR 0.08
- MetaSVM -1.04
- PolyPhen-2 0.00
- SIFT 0.07
- MutPred 0.16
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available