E52E (p.Glu52Glu) variant of TAFAZZIN (Q16635)
E52E (p.Glu52Glu) in TAFAZZIN (Q16635) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
E52E (p.Glu52Glu) variant details
- p.Glu52Glu
- gnomAD X-154412132-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.169
- CADD 12.50
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available