E14K (p.Glu14Lys) variant of CXCR4 (C-X-C chemokine receptor type 4)
E14K (p.Glu14Lys) 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 0.33 / 1. The record also includes population frequency data and structural context.
E14K (p.Glu14Lys) variant details
- p.Glu14Lys
- rs1558837039
- NCI-TCGA Cosmic COSV5401
- cosmic curated COSV54012
- Ensembl rs1558837039
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.15
- MetaLR 0.14
- MetaSVM -0.94
- CADD 22.40
- PolyPhen-2 0.13
- SIFT 0.16
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available