P90Q (p.Pro90Gln) variant of SMC3 (Q9UQE7)
P90Q (p.Pro90Gln) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
P90Q (p.Pro90Gln) variant details
- p.Pro90Gln
- gnomAD 10-110577491-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.44
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 31.00
- PolyPhen-2 0.90
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available