T113I (p.Thr113Ile) variant of IRAK1 (P51617)
T113I (p.Thr113Ile) in IRAK1 (P51617) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of IRAK1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
T113I (p.Thr113Ile) variant details
- p.Thr113Ile
- rs11465829
- ClinGen CA10558358
- ClinVar RCV003957143
- 1000Genomes rs11465829
- Benign
- IRAK1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- CADD 9.38
- ClinVar: Benign (IRAK1-related disorder)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 0.00037)
- Structural context available