Y27S (p.Tyr27Ser) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
Y27S (p.Tyr27Ser) 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 likely pathogenic in the context of PTEN hamartoma tumor syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes experimental measurements, published literature, and structural context.
Y27S (p.Tyr27Ser) variant details
- p.Tyr27Ser
- rs886041877
- ClinGen CA10603162
- ClinVar RCV000355517
- ClinVar RCV001855073
- Likely pathogenic
- PTEN hamartoma tumor syndrome
- 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: Likely pathogenic (PTEN hamartoma tumor syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PTEN VAMP-seq Combined: score 0.397
- Cited in: Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay. (PMID 10866302)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)