E7V (p.Glu7Val) variant of PTEN (P60484)
E7V (p.Glu7Val) in PTEN (P60484) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E7V (p.Glu7Val) variant details
- p.Glu7Val
- gnomAD 10-87863954-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- ESM-1b 1.00
- AlphaMissense 0.69
- CADD 20.90
- Population evidence available
- Structural context available
- PTEN VAMP-seq Combined: score 0.577
- Literature evidence available