S5I (p.Ser5Ile) variant of CXCR4 (C-X-C chemokine receptor type 4)
S5I (p.Ser5Ile) 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.
S5I (p.Ser5Ile) variant details
- p.Ser5Ile
- gnomAD 2-136118047-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.03
- MetaLR 0.08
- MetaSVM -1.04
- CADD 11.10
- PolyPhen-2 0.00
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available