D47V (p.Asp47Val) variant of TLR3 (Toll-like receptor 3)
D47V (p.Asp47Val) in TLR3 (Toll-like receptor 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided; Herpes simplex encephalitis, susceptibility to, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
D47V (p.Asp47Val) variant details
- p.Asp47Val
- rs770261956
- ClinGen CA3161166
- ClinVar RCV001886061
- ClinVar RCV004041081
- Uncertain significance
- not specified; not provided; Herpes simplex encephalitis, susceptibility to, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.07
- MetaLR 0.09
- MetaSVM -1.02
- CADD 13.00
- PolyPhen-2 0.03
- SIFT 0.05
- ClinVar: Uncertain significance (not specified; not provided; Herpes simplex encephalitis, suscep)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available