K6T (p.Lys6Thr) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
K6T (p.Lys6Thr) in PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of PTEN hamartoma tumor syndrome; Hereditary cancer-predisposing syndrome. The record also includes experimental measurements and structural context.
K6T (p.Lys6Thr) variant details
- p.Lys6Thr
- NCI-TCGA Cosmic COSV6428
- NCI-TCGA Cosmic COSV6429
- Uncertain significance
- PTEN hamartoma tumor syndrome; Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (PTEN hamartoma tumor syndrome; Hereditary cancer-predisposing sy)
- UniProt: Uncertain significance
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.24