G279R (p.Gly279Arg) variant of PMS2 (P54278)
G279R (p.Gly279Arg) in PMS2 (P54278) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn. The record also includes structural context.
G279R (p.Gly279Arg) variant details
- p.Gly279Arg
- Ensembl rs63750789
- Likely pathogenic
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- ClinVar: Likely pathogenic (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- UniProt: Likely pathogenic
- Structural context available