P49S (p.Pro49Ser) variant of TLR4 (Toll-like receptor 4)
P49S (p.Pro49Ser) 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 0.63 / 1. The record also includes population frequency data and structural context.
P49S (p.Pro49Ser) variant details
- p.Pro49Ser
- rs775401427
- NCI-TCGA Cosmic COSV6292
- cosmic curated COSV62923
- ExAC rs775401427
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.52
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available