S51W (p.Ser51Trp) variant of NSD1 (Q96L73)
S51W (p.Ser51Trp) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
S51W (p.Ser51Trp) variant details
- p.Ser51Trp
- gnomAD rs1756215957
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.38
- CADD 25.60
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available