P42Q (p.Pro42Gln) variant of PRRT2 (Q7Z6L0)
P42Q (p.Pro42Gln) in PRRT2 (Q7Z6L0) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
P42Q (p.Pro42Gln) variant details
- p.Pro42Gln
- TOPMed rs1166053009
- gnomAD rs1166053009
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available