R52H (p.Arg52His) variant of TLR8 (Toll-like receptor 8)
R52H (p.Arg52His) in TLR8 (Toll-like receptor 8) 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 0.26 / 1. The record also includes population frequency data and structural context.
R52H (p.Arg52His) variant details
- p.Arg52His
- rs781778459
- NCI-TCGA Cosmic COSV5431
- cosmic curated COSV54317
- ExAC rs781778459
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.17
- MetaLR 0.08
- MetaSVM -1.04
- CADD 22.70
- PolyPhen-2 0.15
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00066)
- Structural context available