S170R (p.Ser170Arg) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
S170R (p.Ser170Arg) 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 0.71 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S170R (p.Ser170Arg) variant details
- p.Ser170Arg
- rs1554900534
- ClinGen CA377484273
- NCI-TCGA Cosmic COSV1009
- NCI-TCGA Cosmic COSV6430
- Pathogenic
- PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.95
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Cowden syndrome 1; Hereditary cancer-predisposing syndrome; not)
- EBI: Pathogenic (in CWS1)
- UniProt: Pathogenic (in CWS1)
- Population evidence available
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.427
- Cited in: Germline mutations in PTEN are present in Bannayan-Zonana syndrome. (PMID 9241266)
- Cited in: PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity… (PMID 10400993)