P25A (p.Pro25Ala) variant of NSD1 (Q96L73)
P25A (p.Pro25Ala) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
P25A (p.Pro25Ala) variant details
- p.Pro25Ala
- ExAC rs766881071
- TOPMed rs766881071
- gnomAD rs766881071
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.29
- CADD 20.50
- PolyPhen-2 0.10
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available