Q41K (p.Gln41Lys) variant of TLR8 (Toll-like receptor 8)
Q41K (p.Gln41Lys) 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 0.07 / 1. The record also includes population frequency data and structural context.
Q41K (p.Gln41Lys) variant details
- p.Gln41Lys
- gnomAD rs2043075967
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0682
- REVEL 0.02
- MetaLR 0.04
- MetaSVM -1.01
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.54
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available