M48C (p.Met48Cys) variant of NSD1 (Q96L73)
M48C (p.Met48Cys) 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.
M48C (p.Met48Cys) variant details
- p.Met48Cys
- gnomAD 5-177135243-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.771
- CADD 25.80
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available