E5K (p.Glu5Lys) variant of ZRSR2 (Q15696)
E5K (p.Glu5Lys) in ZRSR2 (Q15696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
E5K (p.Glu5Lys) variant details
- p.Glu5Lys
- gnomAD X-15790508-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.07
- MetaLR 0.04
- MetaSVM -0.97
- CADD 10.90
- PolyPhen-2 0.03
- SIFT 0.69
- Population evidence available
- Structural context available
- Literature evidence available