E54K (p.Glu54Lys) variant of ZRSR2 (Q15696)
E54K (p.Glu54Lys) in ZRSR2 (Q15696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
E54K (p.Glu54Lys) variant details
- p.Glu54Lys
- ExAC rs771966906
- gnomAD rs771966906
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.08
- MetaLR 0.06
- MetaSVM -1.05
- CADD 23.10
- PolyPhen-2 0.30
- SIFT 0.90
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available