L25V (p.Leu25Val) variant of PTEN (P60484)
L25V (p.Leu25Val) in PTEN (P60484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; PTEN hamartoma tumor syndrome. 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.
L25V (p.Leu25Val) variant details
- p.Leu25Val
- rs398123326
- ClinGen CA000561
- ClinVar RCV000078620
- ClinVar RCV001221341
- Uncertain significance
- not provided; PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.91
- MetaSVM 0.90
- PolyPhen-2 0.54
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; PTEN hamartoma tumor syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)