E170K (p.Glu170Lys) variant of SMC3 (Q9UQE7)
E170K (p.Glu170Lys) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
E170K (p.Glu170Lys) variant details
- p.Glu170Lys
- gnomAD rs1861021107
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- REVEL 0.70
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 25.90
- PolyPhen-2 0.95
- SIFT 0.08
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available