K13E (p.Lys13Glu) variant of PTEN (P60484)
K13E (p.Lys13Glu) in PTEN (P60484) 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; Cowden syndrome; Cowden syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes experimental measurements, published literature, and structural context.
K13E (p.Lys13Glu) variant details
- p.Lys13Glu
- rs1554890348
- ClinGen CA377781904
- NCI-TCGA Cosmic COSV6428
- NCI-TCGA Cosmic COSV6429
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; Cowden syndrome; Cowden syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.90
- MetaSVM 0.97
- PolyPhen-2 0.88
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; Cowden syndrome; Cowden)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PTEN VAMP-seq Combined: score 0.864
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)
- Cited in: Genetic/familial high-risk assessment: breast and ovarian, version 1.2014. (PMID 25190698)