G28A (p.Gly28Ala) variant of TRMU (O75648)
G28A (p.Gly28Ala) in TRMU (O75648) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance 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 0.87 / 1. The record also includes structural context.
G28A (p.Gly28Ala) variant details
- p.Gly28Ala
- Ensembl rs965139259
- Uncertain significance
- Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- ESM-1b 1.00
- AlphaMissense 0.71
- ClinVar: Uncertain significance (Acute infantile liver failure due to synthesis defect of mtDNA-e)
- UniProt: Uncertain significance
- Structural context available