Q11L (p.Gln11Leu) variant of TLR7 (Toll-like receptor 7)
Q11L (p.Gln11Leu) in TLR7 (Toll-like receptor 7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
Q11L (p.Gln11Leu) variant details
- p.Gln11Leu
- rs179008
- ClinGen CA10349891
- ClinVar RCV002846219
- ClinVar RCV003491156
- Benign
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0843
- REVEL 0.04
- MetaLR 0.00
- MetaSVM -1.02
- CADD 5.13
- PolyPhen-2 0.00
- SIFT 0.42
- ClinVar: Benign (not provided; not specified)
- EBI: Benign (in dbSNP:rs179008)
- UniProt: Benign (in dbSNP:rs179008)
- Most common in the HGDP:SURUI population (allele frequency 0.45)
- Structural context available
- Cited in: The heterogeneous allelic repertoire of human toll-like receptor (TLR) genes. (PMID 19924287)