E45D (p.Glu45Asp) variant of PMS1 (PMS1 protein homolog 1)
E45D (p.Glu45Asp) in PMS1 (PMS1 protein homolog 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes experimental measurements and structural context.
E45D (p.Glu45Asp) variant details
- p.Glu45Asp
- NCI-TCGA Cosmic COSV5971
- cosmic curated COSV59715
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.787