C25Y (p.Cys25Tyr) variant of TLR8 (Toll-like receptor 8)
C25Y (p.Cys25Tyr) in TLR8 (Toll-like receptor 8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
C25Y (p.Cys25Tyr) variant details
- p.Cys25Tyr
- rs143939946
- ClinGen CA10350172
- ClinVar RCV004115806
- ESP rs143939946
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.02
- MetaLR 0.04
- MetaSVM -1.05
- CADD 0.38
- PolyPhen-2 0.00
- SIFT 0.39
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00062)
- Structural context available