H96Y (p.His96Tyr) variant of TLR8 (Toll-like receptor 8)
H96Y (p.His96Tyr) 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 Immunodeficiency 98 with autoinflammation, X-linked; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
H96Y (p.His96Tyr) variant details
- p.His96Tyr
- ESP rs146700498
- ExAC rs146700498
- TOPMed rs146700498
- gnomAD rs146700498
- Uncertain significance
- Immunodeficiency 98 with autoinflammation, X-linked; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.10
- MetaLR 0.09
- MetaSVM -1.07
- CADD 13.20
- PolyPhen-2 0.28
- SIFT 1.00
- ClinVar: Uncertain significance (Immunodeficiency 98 with autoinflammation, X-linked; not specifi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00011)
- Structural context available