E60K (p.Glu60Lys) variant of ZRSR2 (Q15696)
E60K (p.Glu60Lys) in ZRSR2 (Q15696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
E60K (p.Glu60Lys) variant details
- p.Glu60Lys
- gnomAD X-15799928-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.18
- MetaLR 0.71
- MetaSVM 0.39
- CADD 26.60
- PolyPhen-2 0.97
- SIFT 0.71
- Population evidence available
- Structural context available
- Literature evidence available