F82V (p.Phe82Val) variant of TRMU (O75648)
F82V (p.Phe82Val) in TRMU (O75648) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Acute infantile liver failure due to synthesis defect of mtDNA-enc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
F82V (p.Phe82Val) variant details
- p.Phe82Val
- rs1291699841
- ClinGen CA411940507
- ClinVar RCV002620804
- gnomAD rs1291699841
- Likely pathogenic
- not provided; Acute infantile liver failure due to synthesis defect of mtDNA-enc
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.85
- CADD 27.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Acute infantile liver failure due to synthesis def)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available