S289L (p.Ser289Leu) variant of SMC1A (Q14683)
S289L (p.Ser289Leu) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
S289L (p.Ser289Leu) variant details
- p.Ser289Leu
- gnomAD X-53380638-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 8.96
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available