N44T (p.Asn44Thr) variant of NSD1 (Q96L73)
N44T (p.Asn44Thr) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
N44T (p.Asn44Thr) variant details
- p.Asn44Thr
- TOPMed rs1278011388
- gnomAD rs1278011388
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.37
- CADD 23.30
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available