R227T (p.Arg227Thr) variant of TRMU (O75648)
R227T (p.Arg227Thr) in TRMU (O75648) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R227T (p.Arg227Thr) variant details
- p.Arg227Thr
- rs764622793
- ClinGen CA10292164
- ClinVar RCV001250083
- ClinVar RCV001879773
- Pathogenic/Likely pathogenic
- Aminoglycoside-induced deafness; Acute infantile liver failure due to synthesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.60
- ESM-1b 1.00
- AlphaMissense 0.64
- MetaLR 0.51
- MetaSVM 0.20
- CADD 26.00
- ClinVar: Pathogenic/Likely pathogenic (Aminoglycoside-induced deafness; Acute infantile liver failure d)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: TRMU Deficiency. (PMID 37184193)