R1660C (p.Arg1660Cys) variant of NSD1 (Q96L73)
R1660C (p.Arg1660Cys) in NSD1 (Q96L73) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 and structural context.
R1660C (p.Arg1660Cys) variant details
- p.Arg1660Cys
- cosmic curated COSV61783
- Ensembl rs2149917683
- Uncertain significance
- Sotos syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.91
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available