N59M (p.Asn59Met) variant of NSD1 (Q96L73)
N59M (p.Asn59Met) in NSD1 (Q96L73) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
N59M (p.Asn59Met) variant details
- p.Asn59Met
- gnomAD 5-177135275-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.766
- CADD 25.30
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available