R52C (p.Arg52Cys) variant of TLR8 (Toll-like receptor 8)
R52C (p.Arg52Cys) 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 0.32 / 1. The record also includes population frequency data and structural context.
R52C (p.Arg52Cys) variant details
- p.Arg52Cys
- NCI-TCGA Cosmic COSV5431
- cosmic curated COSV54317
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.16
- MetaLR 0.09
- MetaSVM -1.02
- CADD 23.10
- PolyPhen-2 0.15
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 4.8e-06)
- Structural context available