R22G (p.Arg22Gly) variant of TLR4 (Toll-like receptor 4)
R22G (p.Arg22Gly) in TLR4 (Toll-like receptor 4) 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 0.24 / 1. The record also includes population frequency data and structural context.
R22G (p.Arg22Gly) variant details
- p.Arg22Gly
- rs141676121
- ClinGen CA5212140
- cosmic curated COSV10591
- ClinVar RCV004190535
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.11
- CADD 22.90
- PolyPhen-2 0.11
- SIFT 0.06
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.0012)
- Structural context available