C124S (p.Cys124Ser) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
C124S (p.Cys124Ser) 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 pathogenic/likely pathogenic in the context of Hereditary cancer-predisposing syndrome; Cowden syndrome 1; Glioma susceptibilit. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes experimental measurements, published literature, and structural context.
C124S (p.Cys124Ser) variant details
- p.Cys124Ser
- rs876660535
- ClinGen CA377482285
- NCI-TCGA Cosmic COSV6428
- NCI-TCGA Cosmic COSV6429
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; Cowden syndrome 1; Glioma susceptibilit
- Missense
- Variant Prioritization Score for Impact Estimate 0.905
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; Cowden syndrome 1; Glio)
- EBI: Pathogenic (in CWS1)
- UniProt: Pathogenic (in CWS1)
- Structural context available
- PTEN VAMP-seq Combined: score 1.1
- Cited in: PTEN coordinates G(1) arrest by down-regulating cyclin D1 via its protein phosphatase activity and up-regulating p27… (PMID 11230179)
- Cited in: The tumor suppressor, PTEN/MMAC1, dephosphorylates the lipid second messenger, phosphatidylinositol 3,4,5-trisphosphate. (PMID 9593664)