F21L (p.Phe21Leu) variant of PTEN (P60484)
F21L (p.Phe21Leu) in PTEN (P60484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as tier i - strong in the context of Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes experimental measurements, published literature, and structural context.
F21L (p.Phe21Leu) variant details
- p.Phe21Leu
- rs1858399493
- ClinGen CA377782005
- ClinVar RCV001942958
- TOPMed rs1858399493
- Tier I - Strong
- Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.88
- MetaSVM 0.81
- PolyPhen-2 0.19
- SIFT 0.00
- ClinVar: Tier I - Strong (Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wi)
- EBI: Benign
- UniProt: Benign
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.838
- 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)