C28S (p.Cys28Ser) variant of CXCR4 (C-X-C chemokine receptor type 4)
C28S (p.Cys28Ser) in CXCR4 (C-X-C chemokine receptor type 4) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
C28S (p.Cys28Ser) variant details
- p.Cys28Ser
- NCI-TCGA Cosmic COSV5400
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.40
- MetaLR 0.17
- MetaSVM -0.87
- CADD 25.50
- PolyPhen-2 0.98
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available