F81L (p.Phe81Leu) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
F81L (p.Phe81Leu) in PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes experimental measurements and structural context.
F81L (p.Phe81Leu) variant details
- p.Phe81Leu
- rs2132238960
- Ensembl rs2132238960
- ClinGen CA377481373
- ClinVar RCV002465443
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- AlphaMissense 1.00
- MetaLR 0.70
- MetaSVM 0.45
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.67
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.716