D29N (p.Asp29Asn) variant of NSD1 (Q96L73)
D29N (p.Asp29Asn) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
D29N (p.Asp29Asn) variant details
- p.Asp29Asn
- TOPMed rs1756209619
- gnomAD rs1756209619
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.33
- CADD 26.10
- PolyPhen-2 0.59
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available