R2219H (p.Arg2219His) variant of NSD1 (Q96L73)
R2219H (p.Arg2219His) in NSD1 (Q96L73) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Sotos syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
R2219H (p.Arg2219His) variant details
- p.Arg2219His
- rs587784214
- ClinGen CA295117
- cosmic curated COSV61781
- ClinVar RCV003231334
- Pathogenic
- Sotos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- AlphaMissense 0.96
- MetaLR 0.62
- MetaSVM 0.26
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Pathogenic (Sotos syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Sotos Syndrome. (PMID 20301652)