L7I (p.Leu7Ile) variant of NSD1 (Q96L73)
L7I (p.Leu7Ile) in NSD1 (Q96L73) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Sotos syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L7I (p.Leu7Ile) variant details
- p.Leu7Ile
- rs368345846
- ClinGen CA3576832
- ClinVar RCV003232443
- ClinVar RCV004809684
- Conflicting interpretations
- Sotos syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.39
- CADD 18.30
- PolyPhen-2 0.07
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (Sotos syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Sotos Syndrome. (PMID 20301652)