R10S (p.Arg10Ser) variant of NSD1 (Q96L73)
R10S (p.Arg10Ser) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R10S (p.Arg10Ser) variant details
- p.Arg10Ser
- rs1453984892
- gnomAD 5-177136875-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- CADD 1.62
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available