G45R (p.Gly45Arg) variant of NSD1 (Q96L73)
G45R (p.Gly45Arg) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
G45R (p.Gly45Arg) variant details
- p.Gly45Arg
- gnomAD 5-177135236-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.40
- CADD 23.90
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available