R15I (p.Arg15Ile) variant of PTEN (P60484)
R15I (p.Arg15Ile) in PTEN (P60484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary cancer-predisposing syndrome; PTEN-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes experimental measurements, published literature, and structural context.
R15I (p.Arg15Ile) variant details
- p.Arg15Ile
- rs398123324
- NCI-TCGA Cosmic COSV1009
- NCI-TCGA Cosmic COSV6429
- Likely pathogenic
- Hereditary cancer-predisposing syndrome; PTEN-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.86
- MetaSVM 0.74
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hereditary cancer-predisposing syndrome; PTEN-related disorder)
- EBI: Likely pathogenic (in CWS1)
- UniProt: Likely pathogenic (in CWS1)
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.65
- Cited in: Lynch Syndrome. (PMID 20301390)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)