C46R (p.Cys46Arg) variant of NSD1 (Q96L73)
C46R (p.Cys46Arg) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
C46R (p.Cys46Arg) variant details
- p.Cys46Arg
- Ensembl rs1581089514
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.45
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available