D23G (p.Asp23Gly) variant of NSD1 (Q96L73)
D23G (p.Asp23Gly) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
D23G (p.Asp23Gly) variant details
- p.Asp23Gly
- TOPMed rs1232406723
- gnomAD rs1232406723
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.52
- CADD 25.30
- PolyPhen-2 0.23
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available