S10R (p.Ser10Arg) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
S10R (p.Ser10Arg) in PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-) 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 variant effect predictions, experimental measurements, and structural context.
S10R (p.Ser10Arg) variant details
- p.Ser10Arg
- rs1564801689
- NCI-TCGA Cosmic COSV6429
- Ensembl rs1564801689
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- MutPred 0.61
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.574