E48E (p.Glu48Glu) variant of ZRSR2 (Q15696)
E48E (p.Glu48Glu) in ZRSR2 (Q15696) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
E48E (p.Glu48Glu) variant details
- p.Glu48Glu
- rs748769419
- gnomAD X-15799894-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.102
- CADD 3.07
- Most common in the African/African-American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available