Q30L (p.Gln30Leu) variant of PMS2 (P54278)
Q30L (p.Gln30Leu) in PMS2 (P54278) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
Q30L (p.Gln30Leu) variant details
- p.Gln30Leu
- TOPMed rs56203955
- gnomAD rs56203955
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available