S75F (p.Ser75Phe) variant of SMC3 (Q9UQE7)
S75F (p.Ser75Phe) 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.
S75F (p.Ser75Phe) variant details
- p.Ser75Phe
- gnomAD 10-110577446-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.62
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 29.80
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available