L14Q (p.Leu14Gln) variant of NSD1 (Q96L73)
L14Q (p.Leu14Gln) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L14Q (p.Leu14Gln) variant details
- p.Leu14Gln
- gnomAD 5-177135144-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.31
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available