G62D (p.Gly62Asp) variant of TLR8 (Toll-like receptor 8)
G62D (p.Gly62Asp) in TLR8 (Toll-like receptor 8) is a missense change. Clinical records from ClinVar 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 0.28 / 1. The record also includes population frequency data and structural context.
G62D (p.Gly62Asp) variant details
- p.Gly62Asp
- cosmic curated COSV54319
- TOPMed rs895108222
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.04
- MetaLR 0.05
- MetaSVM -1.06
- CADD 6.41
- PolyPhen-2 0.01
- SIFT 0.64
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.4e-05)
- Structural context available