E65K (p.Glu65Lys) variant of ZRSR2 (Q15696)
E65K (p.Glu65Lys) in ZRSR2 (Q15696) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
E65K (p.Glu65Lys) variant details
- p.Glu65Lys
- gnomAD X-15799941-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.337
- CADD 24.30
- Population evidence available
- Structural context available
- Literature evidence available