p.Gly5dup variant of PTEN (P60484)
p.Gly5dup in PTEN (P60484) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
p.Gly5dup variant details
- gnomAD 10-87863956-C-CGG
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.679
- CADD 19.70
- Population evidence available
- Structural context available
- PTEN VAMP-seq Combined: score 0.872
- Literature evidence available