Q58* (p.Gln58Ter) variant of NSD1 (Q96L73)
Q58* (p.Gln58Ter) in NSD1 (Q96L73) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
Q58* (p.Gln58Ter) variant details
- p.Gln58Ter
- gnomAD 5-177135275-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.851
- CADD 35.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available