N29I (p.Asn29Ile) variant of TLR8 (Toll-like receptor 8)
N29I (p.Asn29Ile) 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 0.09 / 1. The record also includes population frequency data and structural context.
N29I (p.Asn29Ile) variant details
- p.Asn29Ile
- TOPMed rs770057078
- gnomAD rs770057078
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0938
- REVEL 0.04
- MetaLR 0.04
- MetaSVM -1.06
- CADD 6.31
- PolyPhen-2 0.10
- SIFT 0.49
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00011)
- Structural context available