T38A (p.Thr38Ala) variant of PMS1 (PMS1 protein homolog 1)
T38A (p.Thr38Ala) in PMS1 (PMS1 protein homolog 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The record also includes experimental measurements and structural context.
T38A (p.Thr38Ala) variant details
- p.Thr38Ala
- TOPMed rs2048902971
- Uncertain significance
- not specified
- Missense
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.504