G125A (p.Gly125Ala) variant of SMC1A (Q14683)
G125A (p.Gly125Ala) in SMC1A (Q14683) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
G125A (p.Gly125Ala) variant details
- p.Gly125Ala
- rs2520969372
- ClinGen CA2579615972
- ClinVar RCV003009630
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.936
- ESM-1b 1.00
- AlphaMissense 0.86
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)