M1K (p.Met1Lys) variant of TRMU (O75648)
M1K (p.Met1Lys) in TRMU (O75648) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.30 / 1. The record also includes published literature and structural context.
M1K (p.Met1Lys) variant details
- p.Met1Lys
- rs118203992
- ClinGen CA114914
- ClinVar RCV000001357
- Pathogenic
- Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- ESM-1b 0.00
- AlphaMissense 0.19
- MetaLR 0.31
- MetaSVM -0.51
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic (Acute infantile liver failure due to synthesis defect of mtDNA-e)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Acute infantile liver failure due to mutations in the TRMU gene. (PMID 19732863)
- Cited in: TRMU Deficiency. (PMID 37184193)