P109T (p.Pro109Thr) variant of IRAK1 (P51617)
P109T (p.Pro109Thr) in IRAK1 (P51617) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
P109T (p.Pro109Thr) variant details
- p.Pro109Thr
- 1000Genomes rs200423500
- ExAC rs200423500
- TOPMed rs200423500
- gnomAD rs200423500
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.12
- CADD 8.02
- PolyPhen-2 0.01
- SIFT 0.50
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2e-05)
- Structural context available