D24Y (p.Asp24Tyr) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
D24Y (p.Asp24Tyr) 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 not provided; Cowden syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes experimental measurements, published literature, and structural context.
D24Y (p.Asp24Tyr) variant details
- p.Asp24Tyr
- rs786201995
- NCI-TCGA TCGA novel
- ClinGen CA000552
- ClinVar RCV000169787
- Pathogenic
- not provided; Cowden syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- MutPred 0.85
- ClinVar: Pathogenic (not provided; Cowden syndrome 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PTEN VAMP-seq Combined: score 0.848
- 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)