R9G (p.Arg9Gly) variant of NSD1 (Q96L73)
R9G (p.Arg9Gly) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R9G (p.Arg9Gly) variant details
- p.Arg9Gly
- gnomAD 5-177135128-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.43
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available