S63C (p.Ser63Cys) variant of CCR5 (C-C chemokine receptor type 5)
S63C (p.Ser63Cys) in CCR5 (C-C chemokine receptor type 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; West Nile virus, susceptibility to; Type 1 diabetes mellitus 22. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
S63C (p.Ser63Cys) variant details
- p.Ser63Cys
- rs142829420
- ClinGen CA2354580
- ClinVar RCV001281053
- ClinVar RCV003224551
- Uncertain significance
- not provided; West Nile virus, susceptibility to; Type 1 diabetes mellitus 22
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.22
- CADD 18.80
- PolyPhen-2 0.25
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; West Nile virus, susceptibility to; Type 1 diabete)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BRAHUI population (allele frequency 0.022)
- Structural context available