T43A (p.Thr43Ala) variant of CXCR4 (C-X-C chemokine receptor type 4)
T43A (p.Thr43Ala) 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 0.24 / 1. The record also includes population frequency data and structural context.
T43A (p.Thr43Ala) variant details
- p.Thr43Ala
- gnomAD rs1221387101
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.11
- MetaLR 0.06
- MetaSVM -1.07
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available