V100A (p.Val100Ala) variant of TLR8 (Toll-like receptor 8)
V100A (p.Val100Ala) in TLR8 (Toll-like receptor 8) 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 0.06 / 1. The record also includes population frequency data and structural context.
V100A (p.Val100Ala) variant details
- p.Val100Ala
- rs200981848
- ClinGen CA10350198
- cosmic curated COSV54321
- ClinVar RCV004472449
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0648
- REVEL 0.01
- MetaLR 0.00
- MetaSVM -0.89
- CADD 0.41
- PolyPhen-2 0.00
- SIFT 0.99
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00067)
- Structural context available