S54R (p.Ser54Arg) variant of NSD1 (Q96L73)
S54R (p.Ser54Arg) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
S54R (p.Ser54Arg) variant details
- p.Ser54Arg
- gnomAD rs1216715825
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.45
- CADD 25.60
- PolyPhen-2 0.83
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available