S37L (p.Ser37Leu) variant of NSD1 (Q96L73)
S37L (p.Ser37Leu) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
S37L (p.Ser37Leu) variant details
- p.Ser37Leu
- rs562677696
- gnomAD 5-177136925-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.084
- CADD 0.48
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available