S289Y (p.Ser289Tyr) variant of SMC1A (Q14683)
S289Y (p.Ser289Tyr) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
S289Y (p.Ser289Tyr) variant details
- p.Ser289Tyr
- gnomAD X-53380629-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- ESM-1b 0.87
- AlphaMissense 0.56
- CADD 8.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available