D50N (p.Asp50Asn) variant of TLR4 (Toll-like receptor 4)
D50N (p.Asp50Asn) in TLR4 (Toll-like receptor 4) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
D50N (p.Asp50Asn) variant details
- p.Asp50Asn
- rs776561489
- NCI-TCGA Cosmic COSV6292
- cosmic curated COSV62924
- ExAC rs776561489
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0944
- REVEL 0.08
- CADD 7.14
- PolyPhen-2 0.00
- SIFT 0.44
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available