I31T (p.Ile31Thr) variant of SMC1A (Q14683)
I31T (p.Ile31Thr) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
I31T (p.Ile31Thr) variant details
- p.Ile31Thr
- Ensembl rs2075764440
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.61
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 0.86
- MetaSVM 0.32
- CADD 29.30
- Population evidence available
- Structural context available