E54G (p.Glu54Gly) variant of ZRSR2 (Q15696)
E54G (p.Glu54Gly) in ZRSR2 (Q15696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
E54G (p.Glu54Gly) variant details
- p.Glu54Gly
- gnomAD X-15799911-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.05
- MetaLR 0.06
- MetaSVM -1.05
- CADD 22.50
- PolyPhen-2 0.38
- SIFT 0.42
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available