P23A (p.Pro23Ala) variant of TLR4 (Toll-like receptor 4)
P23A (p.Pro23Ala) in TLR4 (Toll-like receptor 4) is a missense change. Clinical records from ClinVar 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 0.11 / 1. The record also includes population frequency data and structural context.
P23A (p.Pro23Ala) variant details
- p.Pro23Ala
- TOPMed rs1191926239
- gnomAD rs1191926239
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- REVEL 0.06
- CADD 15.00
- PolyPhen-2 0.01
- SIFT 0.39
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available