S7A (p.Ser7Ala) variant of PMS2 (P54278)
S7A (p.Ser7Ala) in PMS2 (P54278) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
S7A (p.Ser7Ala) variant details
- p.Ser7Ala
- Ensembl rs1064793232
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available