Q58E (p.Gln58Glu) variant of NSD1 (Q96L73)
Q58E (p.Gln58Glu) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
Q58E (p.Gln58Glu) variant details
- p.Gln58Glu
- ExAC rs762876721
- gnomAD rs762876721
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.29
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available