P19L (p.Pro19Leu) variant of NSD1 (Q96L73)
P19L (p.Pro19Leu) 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. The record also includes variant effect predictions, published literature, and structural context.
P19L (p.Pro19Leu) variant details
- p.Pro19Leu
- rs1756207246
- ClinGen CA362290260
- NCI-TCGA Cosmic COSV6177
- ClinVar RCV003232309
- Uncertain significance
- Sotos syndrome
- Missense
- MutPred 0.35
- ClinVar: Uncertain significance (Sotos syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Sotos Syndrome. (PMID 20301652)