K44R (p.Lys44Arg) variant of TLR7 (Toll-like receptor 7)
K44R (p.Lys44Arg) in TLR7 (Toll-like receptor 7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
K44R (p.Lys44Arg) variant details
- p.Lys44Arg
- rs1306830975
- ClinGen CA412404133
- ClinVar RCV003730641
- ClinVar RCV004676266
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- REVEL 0.11
- MetaLR 0.00
- MetaSVM -0.91
- CADD 1.80
- PolyPhen-2 0.01
- SIFT 0.18
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.7e-05)
- Structural context available