T52I (p.Thr52Ile) variant of TLR7 (Toll-like receptor 7)
T52I (p.Thr52Ile) in TLR7 (Toll-like receptor 7) 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 0.37 / 1. The record also includes population frequency data and structural context.
T52I (p.Thr52Ile) variant details
- p.Thr52Ile
- NCI-TCGA TCGA novel
- gnomAD rs2042907902
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.19
- MetaLR 0.14
- MetaSVM -0.84
- CADD 21.70
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00017)
- Structural context available