T174I (p.Thr174Ile) variant of TRMU (O75648)
T174I (p.Thr174Ile) in TRMU (O75648) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Aminoglycoside-induced deafness; Acute infantile liver failure due to synthesis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
T174I (p.Thr174Ile) variant details
- p.Thr174Ile
- TOPMed rs1356390529
- gnomAD rs1356390529
- Likely pathogenic
- Aminoglycoside-induced deafness; Acute infantile liver failure due to synthesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 26.30
- ClinVar: Likely pathogenic (Aminoglycoside-induced deafness; Acute infantile liver failure d)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available