Q49* (p.Gln49Ter) variant of NSD1 (Q96L73)
Q49* (p.Gln49Ter) in NSD1 (Q96L73) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
Q49* (p.Gln49Ter) variant details
- p.Gln49Ter
- rs1336273625
- ClinGen CA362290956
- ClinVar RCV003232202
- ClinVar RCV003236864
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.856
- CADD 35.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Sotos Syndrome. (PMID 20301652)