L13C (p.Leu13Cys) variant of NSD1 (Q96L73)
L13C (p.Leu13Cys) in NSD1 (Q96L73) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
L13C (p.Leu13Cys) variant details
- p.Leu13Cys
- rs1456928971
- gnomAD 5-177135136-TTGTC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.418
- CADD 27.90
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available