E48E (p.Glu48Glu) variant of TAFAZZIN (Q16635)
E48E (p.Glu48Glu) in TAFAZZIN (Q16635) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
E48E (p.Glu48Glu) variant details
- p.Glu48Glu
- gnomAD X-154411972-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.35
- CADD 15.40
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available