E60D (p.Glu60Asp) variant of ZRSR2 (Q15696)
E60D (p.Glu60Asp) in ZRSR2 (Q15696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E60D (p.Glu60Asp) variant details
- p.Glu60Asp
- gnomAD X-15799930-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.20
- MetaLR 0.66
- MetaSVM 0.10
- CADD 22.10
- PolyPhen-2 0.96
- SIFT 0.62
- Population evidence available
- Structural context available
- Literature evidence available