M39I (p.Met39Ile) variant of TAFAZZIN (Q16635)
M39I (p.Met39Ile) 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 0.69 / 1. The record also includes published literature and structural context.
M39I (p.Met39Ile) variant details
- p.Met39Ile
- rs1557191054
- cosmic curated COSV99186
- ClinGen CA415179341
- ClinVar RCV002867055
- Uncertain significance
- 3-Methylglutaconic aciduria type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- AlphaMissense 0.66
- MetaLR 0.91
- MetaSVM 0.99
- PolyPhen-2 0.10
- SIFT 0.02
- EVE 0.21
- 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)