L253P (p.Leu253Pro) variant of TRMU (O75648)
L253P (p.Leu253Pro) 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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
L253P (p.Leu253Pro) variant details
- p.Leu253Pro
- rs766314948
- ClinGen CA210005
- ClinVar RCV000196798
- ExAC rs766314948
- Likely pathogenic
- Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.73
- MetaLR 0.68
- MetaSVM 0.64
- CADD 25.60
- ClinVar: Likely pathogenic (Acute infantile liver failure due to synthesis defect of mtDNA-e)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 0.00046)
- Structural context available
- Cited in: TRMU Deficiency. (PMID 37184193)