Y77H (p.Tyr77His) variant of TRMU (O75648)
Y77H (p.Tyr77His) in TRMU (O75648) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
Y77H (p.Tyr77His) variant details
- p.Tyr77His
- rs118203990
- ClinGen CA114912
- cosmic curated COSV51991
- ClinVar RCV000001354
- Pathogenic/Likely pathogenic
- Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Acute infantile liver failure due to synthesis defect of mtDNA-e)
- EBI: Pathogenic (in LFIT)
- UniProt: Pathogenic (in LFIT)
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available
- Cited in: Acute infantile liver failure due to mutations in the TRMU gene. (PMID 19732863)
- Cited in: TRMU Deficiency. (PMID 37184193)