E7A (p.Glu7Ala) variant of PTEN (P60484)
E7A (p.Glu7Ala) in PTEN (P60484) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E7A (p.Glu7Ala) variant details
- p.Glu7Ala
- gnomAD 10-87863954-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- ESM-1b 0.82
- AlphaMissense 0.37
- CADD 21.00
- Population evidence available
- Structural context available
- PTEN VAMP-seq Combined: score 0.577
- Literature evidence available