A362T (p.Ala362Thr) variant of TRMU (O75648)
A362T (p.Ala362Thr) in TRMU (O75648) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
A362T (p.Ala362Thr) variant details
- p.Ala362Thr
- rs1456976925
- ClinGen CA411916934
- ClinVar RCV003860335
- TOPMed rs1456976925
- Likely pathogenic
- Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.68
- ESM-1b 1.00
- AlphaMissense 0.32
- CADD 27.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Acute infantile liver failure due to synthesis defect of mtDNA-e)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available