E2A (p.Glu2Ala) variant of PMS2 (P54278)
E2A (p.Glu2Ala) in PMS2 (P54278) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
E2A (p.Glu2Ala) variant details
- p.Glu2Ala
- gnomAD rs876658233
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available