P48R (p.Pro48Arg) variant of PRRT2 (Q7Z6L0)
P48R (p.Pro48Arg) in PRRT2 (Q7Z6L0) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
P48R (p.Pro48Arg) variant details
- p.Pro48Arg
- gnomAD rs539726929
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available