A29S (p.Ala29Ser) variant of CCR5 (C-C chemokine receptor type 5)
A29S (p.Ala29Ser) in CCR5 (C-C chemokine receptor type 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A29S (p.Ala29Ser) variant details
- p.Ala29Ser
- rs1800939
- UniProt VAR 011839
- ESP rs1800939
- ExAC rs1800939
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.10
- CADD 17.30
- PolyPhen-2 0.04
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available
- Cited in: Novel alleles of the chemokine-receptor gene CCR5. (PMID 9399903)