L42M (p.Leu42Met) variant of TAFAZZIN (Q16635)
L42M (p.Leu42Met) in TAFAZZIN (Q16635) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of 3-Methylglutaconic aciduria type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
L42M (p.Leu42Met) variant details
- p.Leu42Met
- TOPMed rs2068326989
- gnomAD rs2068326989
- Uncertain significance
- 3-Methylglutaconic aciduria type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- CADD 24.70
- PolyPhen-2 0.95
- SIFT 0.05
- ClinVar: Uncertain significance (3-Methylglutaconic aciduria type 2)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available