H66Y (p.His66Tyr) variant of SMC3 (Q9UQE7)
H66Y (p.His66Tyr) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
H66Y (p.His66Tyr) variant details
- p.His66Tyr
- gnomAD 10-110575401-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- REVEL 0.59
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available