S218I (p.Ser218Ile) variant of TRMU (O75648)
S218I (p.Ser218Ile) in TRMU (O75648) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.93 / 1. The record also includes published literature and structural context.
S218I (p.Ser218Ile) variant details
- p.Ser218Ile
- rs1601977105
- ClinGen CA411946110
- ClinVar RCV000995908
- Ensembl rs1601977105
- Likely pathogenic
- Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
- Missense
- Variant Prioritization Score for Impact Estimate 0.926
- ESM-1b 1.00
- AlphaMissense 0.86
- MetaLR 0.86
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Acute infantile liver failure due to synthesis defect of mtDNA-e)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: TRMU Deficiency. (PMID 37184193)