S30F (p.Ser30Phe) variant of NSD1 (Q96L73)
S30F (p.Ser30Phe) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
S30F (p.Ser30Phe) variant details
- p.Ser30Phe
- rs922221697
- gnomAD 5-177136913-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- CADD 3.38
- Population evidence available
- Structural context available
- Literature evidence available