E54E (p.Glu54Glu) variant of ZRSR2 (Q15696)
E54E (p.Glu54Glu) in ZRSR2 (Q15696) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
E54E (p.Glu54Glu) variant details
- p.Glu54Glu
- gnomAD X-15799912-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.392
- CADD 11.00
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available