L270P (p.Leu270Pro) variant of SMC1A (Q14683)
L270P (p.Leu270Pro) 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.
L270P (p.Leu270Pro) variant details
- p.Leu270Pro
- gnomAD X-53380623-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 6.69
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available