Y326F (p.Tyr326Phe) variant of SMC1A (Q14683)
Y326F (p.Tyr326Phe) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital muscular hypertrophy-cerebral syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
Y326F (p.Tyr326Phe) variant details
- p.Tyr326Phe
- rs2520957741
- ClinGen CA413257618
- ClinVar RCV002837674
- Uncertain significance
- Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- ESM-1b 0.64
- AlphaMissense 0.09
- ClinVar: Uncertain significance (Congenital muscular hypertrophy-cerebral syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)