D41E (p.Asp41Glu) variant of TLR7 (Toll-like receptor 7)
D41E (p.Asp41Glu) in TLR7 (Toll-like receptor 7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
D41E (p.Asp41Glu) variant details
- p.Asp41Glu
- rs757348701
- ClinGen CA326797071
- ClinVar RCV002913452
- Ensembl rs757348701
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0676
- REVEL 0.01
- MetaLR 0.05
- MetaSVM -1.01
- CADD 0.18
- PolyPhen-2 0.06
- SIFT 0.83
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available