E67E (p.Glu67Glu) variant of ZRSR2 (Q15696)
E67E (p.Glu67Glu) in ZRSR2 (Q15696) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
E67E (p.Glu67Glu) variant details
- p.Glu67Glu
- rs1329781895
- gnomAD X-15799951-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.289
- CADD 13.40
- Population evidence available
- Structural context available
- Literature evidence available