P142S (p.Pro142Ser) variant of TLR9 (Toll-like receptor 9)
P142S (p.Pro142Ser) in TLR9 (Toll-like receptor 9) is a missense change. Clinical records from ClinVar, EBI, 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 0.54 / 1. The record also includes population frequency data and structural context.
P142S (p.Pro142Ser) variant details
- p.Pro142Ser
- rs1379324294
- ClinGen CA353102226
- ClinVar RCV004098192
- TOPMed rs1379324294
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.37
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available