T43S (p.Thr43Ser) variant of CXCR4 (C-X-C chemokine receptor type 4)
T43S (p.Thr43Ser) 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 0.25 / 1. The record also includes population frequency data and structural context.
T43S (p.Thr43Ser) variant details
- p.Thr43Ser
- ExAC rs778969048
- TOPMed rs778969048
- gnomAD rs778969048
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.07
- MetaLR 0.08
- MetaSVM -1.11
- CADD 23.20
- PolyPhen-2 0.06
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available