V30M (p.Val30Met) variant of TLR4 (Toll-like receptor 4)
V30M (p.Val30Met) 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 0.10 / 1. The record also includes population frequency data and structural context.
V30M (p.Val30Met) variant details
- p.Val30Met
- rs756229233
- NCI-TCGA Cosmic COSV6292
- cosmic curated COSV62923
- ExAC rs756229233
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.096
- REVEL 0.02
- CADD 19.70
- PolyPhen-2 0.04
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available