H2162Q (p.His2162Gln) variant of NSD1 (Q96L73)
H2162Q (p.His2162Gln) 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 0.72 / 1. The record also includes published literature and structural context.
H2162Q (p.His2162Gln) variant details
- p.His2162Gln
- rs2127279165
- ClinGen CA362323364
- ClinVar RCV003232561
- Ensembl rs2127279165
- Likely pathogenic
- Sotos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- AlphaMissense 1.00
- MetaLR 0.72
- MetaSVM 0.45
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- ClinVar: Likely pathogenic (Sotos syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Sotos Syndrome. (PMID 20301652)