R1861Q (p.Arg1861Gln) variant of NSD1 (Q96L73)
R1861Q (p.Arg1861Gln) 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 0.36 / 1. The record also includes population frequency data and structural context.
R1861Q (p.Arg1861Gln) variant details
- p.Arg1861Gln
- cosmic curated COSV10647
- TOPMed rs745582394
- Pathogenic/Likely pathogenic
- Sotos syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.08
- CADD 24.70
- PolyPhen-2 0.06
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Sotos syndrome; not provided)
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available