C40F (p.Cys40Phe) variant of TLR4 (Toll-like receptor 4)
C40F (p.Cys40Phe) 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 0.69 / 1. The record also includes population frequency data and structural context.
C40F (p.Cys40Phe) variant details
- p.Cys40Phe
- NCI-TCGA Cosmic COSV6292
- cosmic curated COSV62923
- ExAC rs779025130
- TOPMed rs779025130
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.62
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available