T30I (p.Thr30Ile) variant of TAFAZZIN (Q16635)
T30I (p.Thr30Ile) 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 0.68 / 1. The record also includes published literature and structural context.
T30I (p.Thr30Ile) variant details
- p.Thr30Ile
- rs2068315101
- ClinGen CA415178519
- ClinVar RCV001051674
- Ensembl rs2068315101
- Uncertain significance
- 3-Methylglutaconic aciduria type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- AlphaMissense 0.80
- MetaLR 0.93
- MetaSVM 0.82
- PolyPhen-2 0.27
- SIFT 1.00
- EVE 0.14
- 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)