Y155H (p.Tyr155His) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
Y155H (p.Tyr155His) 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; not provided; Macrocephaly-autism syndr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes experimental measurements, published literature, and structural context.
Y155H (p.Tyr155His) variant details
- p.Tyr155His
- rs398123325
- ClinGen CA377482775
- ClinVar RCV000490957
- ClinVar RCV003447532
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Macrocephaly-autism syndr
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- AlphaMissense 1.00
- MetaLR 0.83
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; not provided; Macroceph)
- EBI: Pathogenic (in CWS1)
- UniProt: Pathogenic (in CWS1)
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.2
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: PTEN Hamartoma Tumor Syndrome. (PMID 20301661)