W274S (p.Trp274Ser) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
W274S (p.Trp274Ser) 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 PTEN hamartoma tumor syndrome. The record also includes experimental measurements and structural context.
W274S (p.Trp274Ser) variant details
- p.Trp274Ser
- NCI-TCGA Cosmic COSV1009
- NCI-TCGA Cosmic COSV6428
- Ensembl rs786204875
- Uncertain significance
- PTEN hamartoma tumor syndrome
- Missense
- ClinVar: Uncertain significance (PTEN hamartoma tumor syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PTEN VAMP-seq Combined: score 0.522