I5M (p.Ile5Met) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
I5M (p.Ile5Met) in PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I5M (p.Ile5Met) variant details
- p.Ile5Met
- Ensembl rs2132145458
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.53
- MetaLR 0.77
- MetaSVM 0.40
- CADD 23.00
- PolyPhen-2 0.16
- SIFT 0.07
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- PTEN VAMP-seq Fill-in: score -0.198