E55K (p.Glu55Lys) variant of ZRSR2 (Q15696)
E55K (p.Glu55Lys) in ZRSR2 (Q15696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
E55K (p.Glu55Lys) variant details
- p.Glu55Lys
- Ensembl rs1555899273
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.09
- MetaLR 0.05
- MetaSVM -1.10
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.80
- Most common in the South Asian population (allele frequency 3.8e-05)
- Structural context available