E18K (p.Glu18Lys) variant of CCR5 (C-C chemokine receptor type 5)
E18K (p.Glu18Lys) in CCR5 (C-C chemokine receptor type 5) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
E18K (p.Glu18Lys) variant details
- p.Glu18Lys
- cosmic curated COSV10609
- ESP rs142904831
- ExAC rs142904831
- TOPMed rs142904831
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.10
- CADD 10.10
- PolyPhen-2 0.10
- SIFT 0.56
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00015)
- Structural context available