G272D (p.Gly272Asp) variant of TRMU (O75648)
G272D (p.Gly272Asp) in TRMU (O75648) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.66 / 1. The record also includes published literature and structural context.
G272D (p.Gly272Asp) variant details
- p.Gly272Asp
- rs118203991
- ClinGen CA114913
- ClinVar RCV000001356
- UniProt VAR 063430
- Pathogenic
- Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- ESM-1b 1.00
- AlphaMissense 0.27
- MetaLR 0.61
- MetaSVM 0.38
- PolyPhen-2 0.58
- SIFT 0.00
- ClinVar: Pathogenic (Acute infantile liver failure due to synthesis defect of mtDNA-e)
- EBI: Pathogenic (in LFIT)
- UniProt: Pathogenic (in LFIT)
- Structural context available
- Cited in: Acute infantile liver failure due to mutations in the TRMU gene. (PMID 19732863)
- Cited in: TRMU Deficiency. (PMID 37184193)