Y1615S (p.Tyr1615Ser) variant of NSD1 (Q96L73)
Y1615S (p.Tyr1615Ser) 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.
Y1615S (p.Tyr1615Ser) variant details
- p.Tyr1615Ser
- rs398124378
- ClinGen CA294909
- ClinVar RCV003231246
- Ensembl rs398124378
- Likely pathogenic
- Sotos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- AlphaMissense 0.99
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Likely pathogenic (Sotos syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Sotos Syndrome. (PMID 20301652)