A29T (p.Ala29Thr) variant of CCR5 (C-C chemokine receptor type 5)
A29T (p.Ala29Thr) in CCR5 (C-C chemokine receptor type 5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
A29T (p.Ala29Thr) variant details
- p.Ala29Thr
- rs1800939
- NCI-TCGA Cosmic COSV5275
- cosmic curated COSV52751
- ESP rs1800939
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.21
- CADD 18.90
- PolyPhen-2 0.04
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact. (in dbSNP:rs1800939)
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available