Y27F (p.Tyr27Phe) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
Y27F (p.Tyr27Phe) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes experimental measurements and structural context.
Y27F (p.Tyr27Phe) variant details
- p.Tyr27Phe
- rs886041877
- ClinGen CA377784358
- ClinVar RCV003442380
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.928
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 0.60
- SIFT 0.00
- MutPred 0.88
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PTEN VAMP-seq Combined: score 0.397