R1778Q (p.Arg1778Gln) variant of NSD1 (Q96L73)
R1778Q (p.Arg1778Gln) in NSD1 (Q96L73) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic/likely pathogenic in the context of Sotos syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
R1778Q (p.Arg1778Gln) variant details
- p.Arg1778Gln
- ExAC rs765594077
- gnomAD rs765594077
- Pathogenic/Likely pathogenic
- Sotos syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.41
- CADD 29.60
- PolyPhen-2 0.93
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Sotos syndrome; not provided)
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available