I48T (p.Ile48Thr) variant of TLR7 (Toll-like receptor 7)
I48T (p.Ile48Thr) in TLR7 (Toll-like receptor 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
I48T (p.Ile48Thr) variant details
- p.Ile48Thr
- gnomAD X-12885651-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.03
- MetaLR 0.04
- MetaSVM -1.03
- CADD 2.09
- PolyPhen-2 0.01
- SIFT 0.69
- Population evidence available
- Structural context available
- Literature evidence available