P10R (p.Pro10Arg) variant of TAFAZZIN (Q16635)
P10R (p.Pro10Arg) in TAFAZZIN (Q16635) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Left ventricular noncompaction cardiomyopathy; 3-Methylglutaconic aciduria type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
P10R (p.Pro10Arg) variant details
- p.Pro10Arg
- rs781941217
- ClinGen CA10562260
- ClinVar RCV000853160
- ClinVar RCV001169982
- Uncertain significance
- Left ventricular noncompaction cardiomyopathy; 3-Methylglutaconic aciduria type
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Left ventricular noncompaction cardiomyopathy; 3-Methylglutaconi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Barth Syndrome. (PMID 25299040)