L270S (p.Leu270Ser) variant of SMC1A (Q14683)
L270S (p.Leu270Ser) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L270S (p.Leu270Ser) variant details
- p.Leu270Ser
- gnomAD X-53380635-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- ESM-1b 0.99
- AlphaMissense 0.83
- CADD 11.30
- SIFT 0.32
- Population evidence available
- Structural context available
- Literature evidence available