C20S (p.Cys20Ser) variant of CCR5 (C-C chemokine receptor type 5)
C20S (p.Cys20Ser) in CCR5 (C-C chemokine receptor type 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
C20S (p.Cys20Ser) variant details
- p.Cys20Ser
- rs145061115
- UniProt VAR 024067
- 1000Genomes rs145061115
- ESP rs145061115
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.50
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available
- Cited in: Novel alleles of the chemokine-receptor gene CCR5. (PMID 9399903)