G29E (p.Gly29Glu) variant of PMS2 (P54278)
G29E (p.Gly29Glu) in PMS2 (P54278) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes population frequency data and structural context.
G29E (p.Gly29Glu) variant details
- p.Gly29Glu
- 1000Genomes rs146176004
- ESP rs146176004
- ExAC rs146176004
- TOPMed rs146176004
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available