T65A (p.Thr65Ala) variant of TLR7 (Toll-like receptor 7)
T65A (p.Thr65Ala) in TLR7 (Toll-like receptor 7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
T65A (p.Thr65Ala) variant details
- p.Thr65Ala
- rs2042908064
- ClinGen CA412404273
- ClinVar RCV002755954
- TOPMed rs2042908064
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0698
- REVEL 0.02
- MetaLR 0.04
- MetaSVM -0.97
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 8.5e-05)
- Structural context available