E59Q (p.Glu59Gln) variant of ZRSR2 (Q15696)
E59Q (p.Glu59Gln) in ZRSR2 (Q15696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
E59Q (p.Glu59Gln) variant details
- p.Glu59Gln
- gnomAD X-15799925-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.16
- MetaLR 0.75
- MetaSVM 0.62
- CADD 22.30
- PolyPhen-2 0.97
- SIFT 0.54
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available