D16A (p.Asp16Ala) variant of SMC3 (Q9UQE7)
D16A (p.Asp16Ala) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
D16A (p.Asp16Ala) variant details
- p.Asp16Ala
- gnomAD 10-110568969-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 30.00
- PolyPhen-2 0.87
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available