R1914C (p.Arg1914Cys) variant of NSD1 (Q96L73)
R1914C (p.Arg1914Cys) in NSD1 (Q96L73) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Sotos syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R1914C (p.Arg1914Cys) variant details
- p.Arg1914Cys
- rs587784154
- ClinGen CA294974
- NCI-TCGA Cosmic COSV6177
- cosmic curated COSV61777
- Pathogenic
- Sotos syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.89
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Sotos syndrome; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Sotos Syndrome. (PMID 20301652)