L25S (p.Leu25Ser) variant of PTEN (P60484)
L25S (p.Leu25Ser) in PTEN (P60484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes experimental measurements, published literature, and structural context.
L25S (p.Leu25Ser) variant details
- p.Leu25Ser
- rs786204912
- ClinGen CA000563
- ClinVar RCV000169853
- ClinVar RCV004943766
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.922
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.07
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.103
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)