A7T (p.Ala7Thr) variant of PMS1 (PMS1 protein homolog 1)
A7T (p.Ala7Thr) in PMS1 (PMS1 protein homolog 1) is a missense change. The record also includes experimental measurements and structural context.
A7T (p.Ala7Thr) variant details
- p.Ala7Thr
- Ensembl rs2106212584
- Missense
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.379