A140V (p.Ala140Val) variant of TLR9 (Toll-like receptor 9)
A140V (p.Ala140Val) in TLR9 (Toll-like receptor 9) 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 0.30 / 1. The record also includes population frequency data and structural context.
A140V (p.Ala140Val) variant details
- p.Ala140Val
- rs200627901
- ClinGen CA2430826
- ClinVar RCV004472461
- ExAC rs200627901
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.10
- CADD 21.00
- PolyPhen-2 0.62
- SIFT 0.26
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available