S36Y (p.Ser36Tyr) variant of SMC3 (Q9UQE7)
S36Y (p.Ser36Tyr) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
S36Y (p.Ser36Tyr) variant details
- p.Ser36Tyr
- gnomAD 10-110573722-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available