L50P (p.Leu50Pro) variant of TAFAZZIN (Q16635)
L50P (p.Leu50Pro) 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 record also includes published literature and structural context.
L50P (p.Leu50Pro) variant details
- p.Leu50Pro
- rs2522924071
- ClinGen CA415179618
- ClinVar RCV003237258
- Uncertain significance
- 3-Methylglutaconic aciduria type 2
- Missense
- 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)