R1660H (p.Arg1660His) variant of NSD1 (Q96L73)
R1660H (p.Arg1660His) in NSD1 (Q96L73) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
R1660H (p.Arg1660His) variant details
- p.Arg1660His
- Ensembl rs2149917696
- Likely pathogenic
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.92
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Likely pathogenic (Inborn genetic diseases)
- UniProt: Likely pathogenic
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available