R5C (p.Arg5Cys) variant of TLR9 (Toll-like receptor 9)
R5C (p.Arg5Cys) in TLR9 (Toll-like receptor 9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
R5C (p.Arg5Cys) variant details
- p.Arg5Cys
- rs5743842
- ClinGen CA2430897
- ClinVar RCV000971495
- UniProt VAR 024668
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- REVEL 0.14
- CADD 0.05
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Benign (not provided)
- EBI: Benign (in dbSNP:rs5743842)
- UniProt: Benign (in dbSNP:rs5743842)
- Most common in the 1KG:GWD population (allele frequency 0.11)
- Structural context available