L228I (p.Leu228Ile) variant of SMC1A (Q14683)
L228I (p.Leu228Ile) 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 0.85 / 1. The record also includes structural context.
L228I (p.Leu228Ile) variant details
- p.Leu228Ile
- rs2520961952
- ClinGen CA413258799
- ClinVar RCV003397710
- Uncertain significance
- SMC1A-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- ESM-1b 1.00
- AlphaMissense 0.68
- ClinVar: Uncertain significance (SMC1A-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available