L55Q (p.Leu55Gln) variant of CCR5 (C-C chemokine receptor type 5)
L55Q (p.Leu55Gln) in CCR5 (C-C chemokine receptor type 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
L55Q (p.Leu55Gln) variant details
- p.Leu55Gln
- rs1799863
- cosmic curated COSV99068
- UniProt VAR 011840
- 1000Genomes rs1799863
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.43
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:MOZABITE population (allele frequency 0.14)
- Structural context available
- Cited in: The extent of genetic variation in the CCR5 gene. (PMID 9207783)
- Cited in: Novel alleles of the chemokine-receptor gene CCR5. (PMID 9399903)