P25L (p.Pro25Leu) variant of NSD1 (Q96L73)
P25L (p.Pro25Leu) 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 and structural context.
P25L (p.Pro25Leu) variant details
- p.Pro25Leu
- ExAC rs767337519
- gnomAD rs767337519
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.25
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available