p.Ala15 Ala17del variant of PTEN (P60484)
p.Ala15 Ala17del in PTEN (P60484) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
p.Ala15 Ala17del variant details
- rs1237307954
- gnomAD 10-87863967-AGCGG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.285
- CADD 17.60
- Most common in the Non-Finnish European population (allele frequency 6.8e-06)
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.01
- Literature evidence available