p.Ala17dup variant of PTEN (P60484)
p.Ala17dup in PTEN (P60484) 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