F32S (p.Phe32Ser) variant of NSD1 (Q96L73)
F32S (p.Phe32Ser) in NSD1 (Q96L73) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
F32S (p.Phe32Ser) variant details
- p.Phe32Ser
- rs1235429660
- gnomAD 5-177135195-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.749
- CADD 23.60
- Population evidence available
- Structural context available
- Literature evidence available