H2186R (p.His2186Arg) variant of NSD1 (Q96L73)
H2186R (p.His2186Arg) in NSD1 (Q96L73) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Sotos syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
H2186R (p.His2186Arg) variant details
- p.His2186Arg
- rs587784208
- ClinGen CA295099
- ClinVar RCV003231328
- ClinVar RCV005055612
- Pathogenic/Likely pathogenic
- Sotos syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- AlphaMissense 1.00
- MetaLR 0.75
- MetaSVM 0.65
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Pathogenic/Likely pathogenic (Sotos syndrome; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Sotos Syndrome. (PMID 20301652)