P8L (p.Pro8Leu) variant of NSD1 (Q96L73)
P8L (p.Pro8Leu) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
P8L (p.Pro8Leu) variant details
- p.Pro8Leu
- gnomAD 5-177135126-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.33
- CADD 21.30
- PolyPhen-2 0.07
- SIFT 0.10
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available