L23S (p.Leu23Ser) variant of PTEN (P60484)
L23S (p.Leu23Ser) in PTEN (P60484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of PTEN hamartoma tumor syndrome; Hereditary breast ovarian cancer syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes experimental measurements, published literature, and structural context.
L23S (p.Leu23Ser) variant details
- p.Leu23Ser
- rs1589596407
- ClinGen CA377782023
- ClinVar RCV003620926
- ClinVar RCV006451861
- Conflicting interpretations
- PTEN hamartoma tumor syndrome; Hereditary breast ovarian cancer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.937
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (PTEN hamartoma tumor syndrome; Hereditary breast ovarian cancer)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PTEN VAMP-seq Combined: score 0.552
- Cited in: American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. (PMID 12692171)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)