P11R (p.Pro11Arg) variant of PMS2 (P54278)
P11R (p.Pro11Arg) in PMS2 (P54278) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
P11R (p.Pro11Arg) variant details
- p.Pro11Arg
- gnomAD rs1291217267
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available