V92I (p.Val92Ile) variant of TLR7 (Toll-like receptor 7)
V92I (p.Val92Ile) in TLR7 (Toll-like receptor 7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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.
V92I (p.Val92Ile) variant details
- p.Val92Ile
- rs201304033
- ClinGen CA10349913
- ClinVar RCV003738341
- ClinVar RCV003900914
- Conflicting interpretations
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- REVEL 0.07
- MetaLR 0.01
- MetaSVM -0.96
- CADD 4.69
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.0034)
- Structural context available