R15S (p.Arg15Ser) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
R15S (p.Arg15Ser) 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 Hereditary cancer-predisposing syndrome; not provided; PTEN hamartoma tumor synd. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes experimental measurements, published literature, and structural context.
R15S (p.Arg15Ser) variant details
- p.Arg15Ser
- rs1064794096
- ClinGen CA377781935
- NCI-TCGA Cosmic COSV6429
- NCI-TCGA Cosmic COSV6431
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; not provided; PTEN hamartoma tumor synd
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- AlphaMissense 1.00
- MetaLR 0.88
- MetaSVM 0.79
- PolyPhen-2 0.14
- SIFT 0.00
- EVE 0.70
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; not provided; PTEN hama)
- EBI: Pathogenic (in CWS1)
- UniProt: Pathogenic (in CWS1)
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.65
- Cited in: Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. (PMID 21659347)
- Cited in: Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced… (PMID 9090379)