F90S (p.Phe90Ser) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
F90S (p.Phe90Ser) 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-related disorder; Cowden syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
F90S (p.Phe90Ser) variant details
- p.Phe90Ser
- rs1859965098
- ClinGen CA377482069
- ClinVar RCV001253477
- ClinVar RCV001255368
- Pathogenic/Likely pathogenic
- not provided; PTEN-related disorder; Cowden syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.98
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; PTEN-related disorder; Cowden syndrome 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- PTEN VAMP-seq Combined: score 0.815
- 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)