N44S (p.Asn44Ser) variant of NSD1 (Q96L73)
N44S (p.Asn44Ser) 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.
N44S (p.Asn44Ser) variant details
- p.Asn44Ser
- TOPMed rs1278011388
- gnomAD rs1278011388
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.39
- CADD 23.00
- PolyPhen-2 0.04
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available