S51S (p.Ser51Ser) variant of NSD1 (Q96L73)
S51S (p.Ser51Ser) in NSD1 (Q96L73) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
S51S (p.Ser51Ser) variant details
- p.Ser51Ser
- rs727504052
- gnomAD 5-177135256-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.551
- CADD 11.80
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available