N93S (p.Asn93Ser) variant of TLR9 (Toll-like receptor 9)
N93S (p.Asn93Ser) in TLR9 (Toll-like receptor 9) 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 0.22 / 1. The record also includes population frequency data and structural context.
N93S (p.Asn93Ser) variant details
- p.Asn93Ser
- rs200206317
- ClinGen CA2430848
- ClinVar RCV004341498
- ExAC rs200206317
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.06
- CADD 13.90
- PolyPhen-2 0.01
- SIFT 0.59
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available