F23L (p.Phe23Leu) variant of SMC3 (Q9UQE7)
F23L (p.Phe23Leu) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
F23L (p.Phe23Leu) variant details
- p.Phe23Leu
- gnomAD 10-110568991-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.56
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available