p.Ala12 Ala13insVal variant of PTEN (P60484)
p.Ala12 Ala13insVal in PTEN (P60484) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
p.Ala12 Ala13insVal variant details
- gnomAD 10-87863984-C-CGG
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.548
- CADD 15.80
- Population evidence available
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.01
- Literature evidence available