I64L (p.Ile64Leu) variant of TAFAZZIN (Q16635)
I64L (p.Ile64Leu) in TAFAZZIN (Q16635) is a missense change. Clinical records from ClinVar, EBI, 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 0.58 / 1. The record also includes published literature and structural context.
I64L (p.Ile64Leu) variant details
- p.Ile64Leu
- rs1322365208
- ClinGen CA415179859
- ClinVar RCV001338809
- TOPMed rs1322365208
- Uncertain significance
- 3-Methylglutaconic aciduria type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- AlphaMissense 0.21
- MetaLR 0.85
- MetaSVM 0.71
- PolyPhen-2 0.01
- SIFT 0.23
- EVE 0.15
- ClinVar: Uncertain significance (3-Methylglutaconic aciduria type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Barth Syndrome. (PMID 25299040)