H123Y (p.His123Tyr) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
H123Y (p.His123Tyr) 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 not provided; PTEN hamartoma tumor syndrome; Cowden syndrome 1. 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.
H123Y (p.His123Tyr) variant details
- p.His123Tyr
- rs786204931
- ClinGen CA000417
- NCI-TCGA Cosmic COSV6429
- Pathogenic/Likely pathogenic
- not provided; PTEN hamartoma tumor syndrome; Cowden syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.89
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic/Likely pathogenic (not provided; PTEN hamartoma tumor syndrome; Cowden syndrome 1)
- EBI: Pathogenic (in endometrial cancer)
- UniProt: Pathogenic (in endometrial cancer)
- Structural context available
- PTEN VAMP-seq Combined: score 0.97
- Cited in: P-TEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphatase. (PMID 9256433)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)