W17R (p.Trp17Arg) variant of TAFAZZIN (Q16635)
W17R (p.Trp17Arg) in TAFAZZIN (Q16635) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Endocardial fibroelastosis; 3-Methylglutaconic aciduria type 2; Primary dilated. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
W17R (p.Trp17Arg) variant details
- p.Trp17Arg
- rs2068313278
- ClinGen CA415178196
- ClinVar RCV001167554
- ClinVar RCV001167555
- Uncertain significance
- Endocardial fibroelastosis; 3-Methylglutaconic aciduria type 2; Primary dilated
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- AlphaMissense 0.96
- MetaLR 0.96
- MetaSVM 1.08
- PolyPhen-2 0.42
- SIFT 0.05
- EVE 0.22
- ClinVar: Uncertain significance (Endocardial fibroelastosis; 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)