E49Q (p.Glu49Gln) variant of ZRSR2 (Q15696)
E49Q (p.Glu49Gln) in ZRSR2 (Q15696) is a missense 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.
E49Q (p.Glu49Gln) variant details
- p.Glu49Gln
- gnomAD X-15799895-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.12
- MetaLR 0.06
- MetaSVM -1.05
- CADD 13.50
- PolyPhen-2 0.13
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available
- Literature evidence available