R15K (p.Arg15Lys) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
R15K (p.Arg15Lys) 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 0.76 / 1. The record also includes experimental measurements, published literature, and structural context.
R15K (p.Arg15Lys) variant details
- p.Arg15Lys
- rs398123324
- ClinGen CA16613142
- NCI-TCGA Cosmic COSV1009
- NCI-TCGA Cosmic COSV6429
- Likely pathogenic
- PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- AlphaMissense 1.00
- MetaLR 0.86
- MetaSVM 0.74
- PolyPhen-2 0.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Likely pathogenic (PTEN hamartoma tumor syndrome)
- EBI: Likely pathogenic (in CWS1)
- UniProt: Likely pathogenic (in CWS1)
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.65
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)
- Cited in: PTEN Hamartoma Tumor Syndrome. (PMID 20301661)