Y155C (p.Tyr155Cys) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
Y155C (p.Tyr155Cys) 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 in the context of PTEN hamartoma tumor syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Y155C (p.Tyr155Cys) variant details
- p.Tyr155Cys
- rs1060500126
- ClinGen CA16613246
- NCI-TCGA Cosmic COSV6429
- Pathogenic
- PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- REVEL 0.97
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (PTEN hamartoma tumor syndrome)
- EBI: Pathogenic (in CWS1)
- UniProt: Pathogenic (in CWS1)
- Population evidence available
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.2
- Cited in: Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay. (PMID 10866302)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)