G45W (p.Gly45Trp) variant of NSD1 (Q96L73)
G45W (p.Gly45Trp) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
G45W (p.Gly45Trp) variant details
- p.Gly45Trp
- Ensembl rs2149755394
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.55
- CADD 28.10
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available