I280T (p.Ile280Thr) variant of SMC1A (Q14683)
I280T (p.Ile280Thr) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
I280T (p.Ile280Thr) variant details
- p.Ile280Thr
- rs1569351427
- gnomAD X-53380626-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- ESM-1b 1.00
- AlphaMissense 0.29
- CADD 9.04
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available