K38E (p.Lys38Glu) variant of SMC3 (Q9UQE7)
K38E (p.Lys38Glu) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
K38E (p.Lys38Glu) variant details
- p.Lys38Glu
- Ensembl rs79203236
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- REVEL 0.99
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available