H1365R (p.His1365Arg) variant of NSD1 (Q96L73)
H1365R (p.His1365Arg) in NSD1 (Q96L73) is a missense change. Clinical records from ClinVar 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 0.30 / 1. The record also includes population frequency data and structural context.
H1365R (p.His1365Arg) variant details
- p.His1365Arg
- NCI-TCGA TCGA novel
- Pathogenic
- Sotos syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.21
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Pathogenic (Sotos syndrome; not provided)
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available