T16S (p.Thr16Ser) variant of TAFAZZIN (Q16635)
T16S (p.Thr16Ser) 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 0.54 / 1. The record also includes published literature and structural context.
T16S (p.Thr16Ser) variant details
- p.Thr16Ser
- rs1227132566
- ClinGen CA415178178
- ClinVar RCV001228815
- TOPMed rs1227132566
- Uncertain significance
- 3-Methylglutaconic aciduria type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- AlphaMissense 0.10
- MetaLR 0.87
- MetaSVM 0.49
- PolyPhen-2 0.00
- SIFT 0.35
- EVE 0.05
- 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)