C71Y (p.Cys71Tyr) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
C71Y (p.Cys71Tyr) 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 PTEN hamartoma tumor syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes experimental measurements, published literature, and structural context.
C71Y (p.Cys71Tyr) variant details
- p.Cys71Tyr
- rs1554897856
- ClinGen CA377481238
- NCI-TCGA Cosmic COSV6429
- Pathogenic
- PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Pathogenic (PTEN hamartoma tumor syndrome)
- EBI: Pathogenic (in CWS1)
- UniProt: Pathogenic (in CWS1)
- Structural context available
- PTEN VAMP-seq Combined: score 0.849
- Cited in: Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay. (PMID 10866302)
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)