L7P (p.Leu7Pro) variant of NSD1 (Q96L73)
L7P (p.Leu7Pro) in NSD1 (Q96L73) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of not provided; Sotos syndrome; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
L7P (p.Leu7Pro) variant details
- p.Leu7Pro
- TOPMed rs995047182
- gnomAD rs995047182
- Conflicting interpretations
- not provided; Sotos syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.49
- CADD 25.90
- PolyPhen-2 0.92
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (not provided; Sotos syndrome; Inborn genetic diseases)
- UniProt: Conflicting interpretations
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available