V7F (p.Val7Phe) variant of TRMU (O75648)
V7F (p.Val7Phe) 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 0.85 / 1. The record also includes population frequency data and structural context.
V7F (p.Val7Phe) variant details
- p.Val7Phe
- ExAC rs777781494
- TOPMed rs777781494
- gnomAD rs777781494
- Uncertain significance
- Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.86
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Acute infantile liver failure due to synthesis defect of mtDNA-e)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available