S31P (p.Ser31Pro) variant of TLR8 (Toll-like receptor 8)
S31P (p.Ser31Pro) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
S31P (p.Ser31Pro) variant details
- p.Ser31Pro
- ExAC rs761947630
- TOPMed rs761947630
- gnomAD rs761947630
- Uncertain significance
- Immunodeficiency 98 with autoinflammation, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.04
- MetaLR 0.02
- MetaSVM -0.98
- CADD 0.78
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Uncertain significance (Immunodeficiency 98 with autoinflammation, X-linked)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00073)
- Structural context available