E5V (p.Glu5Val) variant of ZRSR2 (Q15696)
E5V (p.Glu5Val) in ZRSR2 (Q15696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
E5V (p.Glu5Val) variant details
- p.Glu5Val
- gnomAD X-15790509-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0766
- REVEL 0.04
- MetaLR 0.03
- MetaSVM -1.03
- CADD 1.69
- PolyPhen-2 0.01
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available