E10D (p.Glu10Asp) variant of PMS2 (P54278)
E10D (p.Glu10Asp) in PMS2 (P54278) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
E10D (p.Glu10Asp) variant details
- p.Glu10Asp
- Ensembl rs876660608
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available