E67G (p.Glu67Gly) variant of ZRSR2 (Q15696)
E67G (p.Glu67Gly) in ZRSR2 (Q15696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
E67G (p.Glu67Gly) variant details
- p.Glu67Gly
- gnomAD X-15799950-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.28
- MetaLR 0.75
- MetaSVM 0.61
- CADD 24.80
- PolyPhen-2 0.97
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available