V279M (p.Val279Met) variant of TRMU (O75648)
V279M (p.Val279Met) in TRMU (O75648) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases; Acute infantile liver failure due to synthesis defect o. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
V279M (p.Val279Met) variant details
- p.Val279Met
- rs387907022
- ClinGen CA129482
- ClinVar RCV000023804
- ClinVar RCV000442392
- Pathogenic
- Inborn genetic diseases; Acute infantile liver failure due to synthesis defect o
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.72
- ESM-1b 1.00
- AlphaMissense 0.66
- MetaLR 0.84
- MetaSVM 1.00
- CADD 25.10
- ClinVar: Pathogenic (Inborn genetic diseases; Acute infantile liver failure due to sy)
- EBI: Pathogenic (in dbSNP:rs387907022)
- UniProt: Pathogenic (in dbSNP:rs387907022)
- Most common in the South Asian population (allele frequency 0.00056)
- Structural context available
- Cited in: Acute infantile liver failure due to mutations in the TRMU gene. (PMID 19732863)
- Cited in: Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease. (PMID 21931168)