R60S (p.Arg60Ser) variant of CCR5 (C-C chemokine receptor type 5)
R60S (p.Arg60Ser) in CCR5 (C-C chemokine receptor type 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as protective in the context of Susceptibility to HIV infection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
R60S (p.Arg60Ser) variant details
- p.Arg60Ser
- rs1800940
- ClinGen CA119362
- cosmic curated COSV99433
- ClinVar RCV000008673
- protective
- Susceptibility to HIV infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.15
- CADD 17.00
- PolyPhen-2 0.15
- SIFT 0.02
- ClinVar: protective (Susceptibility to HIV infection)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: A homologous naturally occurring mutation in Duffy and CCR5 leading to reduced receptor expression. (PMID 11369664)
- Cited in: Novel alleles of the chemokine-receptor gene CCR5. (PMID 9399903)