P90P (p.Pro90Pro) variant of SMC3 (Q9UQE7)
P90P (p.Pro90Pro) in SMC3 (Q9UQE7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
P90P (p.Pro90Pro) variant details
- p.Pro90Pro
- rs1860969562
- gnomAD 10-110577492-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.18
- CADD 14.00
- Population evidence available
- Structural context available
- Literature evidence available