R73P (p.Arg73Pro) variant of C9ORF72 (Q96LT7)
R73P (p.Arg73Pro) in C9ORF72 (Q96LT7) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
R73P (p.Arg73Pro) variant details
- p.Arg73Pro
- Ensembl rs1819480368
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available