E27K (p.Glu27Lys) variant of TLR8 (Toll-like receptor 8)
E27K (p.Glu27Lys) in TLR8 (Toll-like receptor 8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
E27K (p.Glu27Lys) variant details
- p.Glu27Lys
- rs144647258
- ClinGen CA10350176
- cosmic curated COSV54321
- ClinVar RCV003435898
- Conflicting interpretations
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.03
- MetaLR 0.04
- MetaSVM -1.01
- CADD 2.83
- PolyPhen-2 0.00
- SIFT 0.58
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:LWK population (allele frequency 0.0076)
- Structural context available