H2162P (p.His2162Pro) variant of NSD1 (Q96L73)
H2162P (p.His2162Pro) 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 0.81 / 1. The record also includes published literature and structural context.
H2162P (p.His2162Pro) variant details
- p.His2162Pro
- rs587784204
- ClinGen CA295089
- ClinVar RCV003231324
- Ensembl rs587784204
- Likely pathogenic
- Sotos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- AlphaMissense 1.00
- MetaLR 0.80
- MetaSVM 0.80
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Likely pathogenic (Sotos syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Sotos Syndrome. (PMID 20301652)