D86E (p.Asp86Glu) variant of SMC3 (Q9UQE7)
D86E (p.Asp86Glu) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
D86E (p.Asp86Glu) variant details
- p.Asp86Glu
- gnomAD 10-110577480-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.54
- ESM-1b 1.00
- AlphaMissense 0.82
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available