T4N (p.Thr4Asn) variant of NSD1 (Q96L73)
T4N (p.Thr4Asn) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
T4N (p.Thr4Asn) variant details
- p.Thr4Asn
- ExAC rs745589817
- TOPMed rs745589817
- gnomAD rs745589817
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.29
- CADD 22.90
- PolyPhen-2 0.04
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available