H93Y (p.His93Tyr) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
H93Y (p.His93Tyr) 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 PTEN-related disorder; Hereditary cancer-predisposing syndrome; PTEN hamartoma t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
H93Y (p.His93Tyr) variant details
- p.His93Tyr
- rs786204927
- ClinGen CA377482089
- NCI-TCGA Cosmic COSV6428
- NCI-TCGA Cosmic COSV6429
- Pathogenic/Likely pathogenic
- PTEN-related disorder; Hereditary cancer-predisposing syndrome; PTEN hamartoma t
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- CADD 19.20
- ClinVar: Pathogenic/Likely pathogenic (PTEN-related disorder; Hereditary cancer-predisposing syndrome;)
- EBI: Pathogenic (in CWS1)
- UniProt: Pathogenic (in CWS1)
- Population evidence available
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.324
- Cited in: Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay. (PMID 10866302)
- Cited in: Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. (PMID 24778394)