T18I (p.Thr18Ile) variant of TAFAZZIN (Q16635)
T18I (p.Thr18Ile) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
T18I (p.Thr18Ile) variant details
- p.Thr18Ile
- rs2522919623
- ClinGen CA415178225
- ClinVar RCV003513406
- Uncertain significance
- 3-Methylglutaconic aciduria type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- CADD 23.00
- PolyPhen-2 0.99
- SIFT 0.37
- ClinVar: Uncertain significance (3-Methylglutaconic aciduria type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Barth Syndrome. (PMID 25299040)