N48S (p.Asn48Ser) variant of CCR5 (C-C chemokine receptor type 5)
N48S (p.Asn48Ser) in CCR5 (C-C chemokine receptor type 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
N48S (p.Asn48Ser) variant details
- p.Asn48Ser
- cosmic curated COSV10462
- 1000Genomes rs531662647
- ExAC rs531662647
- gnomAD rs531662647
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.93
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00038)
- Structural context available