P22L (p.Pro22Leu) variant of SMC3 (Q9UQE7)
P22L (p.Pro22Leu) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
P22L (p.Pro22Leu) variant details
- p.Pro22Leu
- gnomAD 10-110568987-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- REVEL 0.72
- ESM-1b 1.00
- AlphaMissense 0.46
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available