C1689S (p.Cys1689Ser) variant of NSD1 (Q96L73)
C1689S (p.Cys1689Ser) in NSD1 (Q96L73) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Sotos syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
C1689S (p.Cys1689Ser) variant details
- p.Cys1689Ser
- rs1756866850
- ClinGen CA362303059
- ClinVar RCV003232277
- Ensembl rs1756866850
- Likely pathogenic
- Sotos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Likely pathogenic (Sotos syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Sotos Syndrome. (PMID 20301652)