P296L (p.Pro296Leu) variant of SMC1A (Q14683)
P296L (p.Pro296Leu) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P296L (p.Pro296Leu) variant details
- p.Pro296Leu
- rs146216425
- gnomAD X-53380647-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 7.74
- SIFT 0.16
- Most common in the 1KG:FIN population (allele frequency 0.013)
- Structural context available
- Literature evidence available