D2E (p.Asp2Glu) variant of NSD1 (Q96L73)
D2E (p.Asp2Glu) 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.
D2E (p.Asp2Glu) variant details
- p.Asp2Glu
- ExAC rs774217599
- gnomAD rs774217599
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.34
- CADD 23.60
- PolyPhen-2 0.10
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available