K6E (p.Lys6Glu) variant of PTEN (P60484)
K6E (p.Lys6Glu) in PTEN (P60484) 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 0.78 / 1. The record also includes experimental measurements, published literature, and structural context.
K6E (p.Lys6Glu) variant details
- p.Lys6Glu
- rs1589596143
- ClinGen CA377781810
- NCI-TCGA Cosmic COSV6429
- ClinVar RCV000798296
- Pathogenic
- PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.80
- MetaSVM 0.56
- PolyPhen-2 0.15
- SIFT 0.00
- ClinVar: Pathogenic (PTEN hamartoma tumor syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.24
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)