I81M (p.Ile81Met) variant of SMC3 (Q9UQE7)
I81M (p.Ile81Met) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
I81M (p.Ile81Met) variant details
- p.Ile81Met
- gnomAD 10-110577465-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.58
- ESM-1b 1.00
- AlphaMissense 0.34
- CADD 25.30
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available