p.Ala17dup variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)

Name: PTEN p.Ala17dup variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-20
License: https://catvariant.com/terms-of-use

p.Ala17dup in PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.

p.Ala17dup variant details

gnomAD 10-87863967-A-AGC
Inframe Insertion
Variant Prioritization Score for Impact Estimate 0.29
CADD 18.50
Most common in the REMAINING population (allele frequency 6.8e-05)
Structural context available
PTEN VAMP-seq Fill-in: score 1.01
Literature evidence available