P19A (p.Pro19Ala) variant of NSD1 (Q96L73)
P19A (p.Pro19Ala) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
P19A (p.Pro19Ala) variant details
- p.Pro19Ala
- gnomAD 5-177135158-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.19
- CADD 21.90
- PolyPhen-2 0.03
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available