L25F (p.Leu25Phe) variant of PTEN (P60484)
L25F (p.Leu25Phe) in PTEN (P60484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of PTEN-related disorder; not provided; PTEN hamartoma tumor syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L25F (p.Leu25Phe) variant details
- p.Leu25Phe
- rs786201506
- ClinGen CA377782046
- ClinVar RCV001379693
- ClinVar RCV004728698
- Pathogenic/Likely pathogenic
- PTEN-related disorder; not provided; PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.09
- CADD 27.30
- ClinVar: Pathogenic/Likely pathogenic (PTEN-related disorder; not provided; PTEN hamartoma tumor syndro)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.103
- 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)