Q49E (p.Gln49Glu) variant of NSD1 (Q96L73)
Q49E (p.Gln49Glu) in NSD1 (Q96L73) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
Q49E (p.Gln49Glu) variant details
- p.Gln49Glu
- gnomAD rs1336273625
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.25
- CADD 18.60
- PolyPhen-2 0.07
- SIFT 0.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available