N96S (p.Asn96Ser) variant of TRMU (O75648)
N96S (p.Asn96Ser) 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 0.79 / 1. The record also includes population frequency data and structural context.
N96S (p.Asn96Ser) variant details
- p.Asn96Ser
- ExAC rs751599083
- TOPMed rs751599083
- gnomAD rs751599083
- Likely pathogenic
- not provided; Acute infantile liver failure due to synthesis defect of mtDNA-enc
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.15
- CADD 25.10
- PolyPhen-2 1.00
- 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