E47G (p.Glu47Gly) variant of ZRSR2 (Q15696)
E47G (p.Glu47Gly) in ZRSR2 (Q15696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
E47G (p.Glu47Gly) variant details
- p.Glu47Gly
- gnomAD X-15799890-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.08
- MetaLR 0.02
- MetaSVM -1.04
- CADD 22.50
- PolyPhen-2 0.33
- SIFT 0.44
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available