M1R (p.Met1Arg) variant of TRMU (O75648)
M1R (p.Met1Arg) in TRMU (O75648) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
M1R (p.Met1Arg) variant details
- p.Met1Arg
- rs118203992
- ClinGen CA323417
- ClinVar RCV000198888
- ClinVar RCV005031733
- Pathogenic/Likely pathogenic
- Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.31
- MetaSVM -0.51
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Acute infantile liver failure due to synthesis defect of mtDNA-e)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: TRMU Deficiency. (PMID 37184193)