Q36K (p.Gln36Lys) variant of NSD1 (Q96L73)
Q36K (p.Gln36Lys) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
Q36K (p.Gln36Lys) variant details
- p.Gln36Lys
- gnomAD 5-177135209-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.26
- CADD 22.50
- PolyPhen-2 0.03
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available