L736F (p.Leu736Phe) variant of MMUT (P22033)
L736F (p.Leu736Phe) in MMUT (P22033) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
L736F (p.Leu736Phe) variant details
- p.Leu736Phe
- rs753461919
- ClinGen CA3846618
- ClinVar RCV000670934
- ClinVar RCV002531268
- Pathogenic/Likely pathogenic
- Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.86
- CADD 24.70
- PolyPhen-2 0.52
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Acute infantile liver failure due to synthesis defect of mtDNA-e)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT)… (PMID 25125334)
- Cited in: TRMU Deficiency. (PMID 37184193)