Y68H (p.Tyr68His) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
Y68H (p.Tyr68His) 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 Prostate cancer; Macrocephaly-autism syndrome; Familial meningioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Y68H (p.Tyr68His) variant details
- p.Tyr68His
- rs398123317
- ClinGen CA000342
- NCI-TCGA Cosmic COSV6428
- NCI-TCGA Cosmic COSV6429
- Pathogenic/Likely pathogenic
- Prostate cancer; Macrocephaly-autism syndrome; Familial meningioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- REVEL 0.99
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Prostate cancer; Macrocephaly-autism syndrome; Familial meningio)
- EBI: Pathogenic (in CWS1)
- UniProt: Pathogenic (in CWS1)
- Population evidence available
- Structural context available
- PTEN VAMP-seq Fill-in: score -0.0865
- Cited in: PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity… (PMID 10400993)
- Cited in: Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay. (PMID 10866302)