I20T (p.Ile20Thr) variant of SMC1A (Q14683)
I20T (p.Ile20Thr) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of SMC1A-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes structural context.
I20T (p.Ile20Thr) variant details
- p.Ile20Thr
- rs2521010247
- ClinGen CA413134990
- ClinVar RCV003416951
- Uncertain significance
- SMC1A-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- ESM-1b 0.00
- AlphaMissense 0.26
- ClinVar: Uncertain significance (SMC1A-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available