Q30H (p.Gln30His) variant of PMS2 (P54278)
Q30H (p.Gln30His) in PMS2 (P54278) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
Q30H (p.Gln30His) variant details
- p.Gln30His
- TOPMed rs1413534855
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available