Q25R (p.Gln25Arg) variant of PMS2 (P54278)
Q25R (p.Gln25Arg) in PMS2 (P54278) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn. The record also includes structural context.
Q25R (p.Gln25Arg) variant details
- p.Gln25Arg
- Ensembl rs2128846036
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- UniProt: Uncertain significance
- Structural context available