L263P (p.Leu263Pro) variant of SMC1A (Q14683)
L263P (p.Leu263Pro) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L263P (p.Leu263Pro) variant details
- p.Leu263Pro
- gnomAD X-53380674-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 10.70
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available