S54G (p.Ser54Gly) variant of NSD1 (Q96L73)
S54G (p.Ser54Gly) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
S54G (p.Ser54Gly) variant details
- p.Ser54Gly
- gnomAD 5-177135263-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.40
- CADD 23.60
- PolyPhen-2 0.48
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available