N18S (p.Asn18Ser) variant of NSD1 (Q96L73)
N18S (p.Asn18Ser) in NSD1 (Q96L73) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Sotos syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
N18S (p.Asn18Ser) variant details
- p.Asn18Ser
- 1000Genomes rs199661846
- Uncertain significance
- Sotos syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.28
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (Sotos syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available