N35D (p.Asn35Asp) variant of TLR4 (Toll-like receptor 4)
N35D (p.Asn35Asp) in TLR4 (Toll-like receptor 4) 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 0.18 / 1. The record also includes population frequency data and structural context.
N35D (p.Asn35Asp) variant details
- p.Asn35Asp
- TOPMed rs1431441433
- gnomAD rs1431441433
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.05
- CADD 18.20
- PolyPhen-2 0.02
- SIFT 0.08
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available