N2020S (p.Asn2020Ser) variant of NSD1 (Q96L73)
N2020S (p.Asn2020Ser) in NSD1 (Q96L73) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Sotos syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
N2020S (p.Asn2020Ser) variant details
- p.Asn2020Ser
- rs587784178
- ClinGen CA295033
- ClinVar RCV001561957
- ClinVar RCV003231298
- Pathogenic
- not provided; Sotos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- ClinVar: Pathogenic (not provided; Sotos syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Sotos Syndrome. (PMID 20301652)