A3E (p.Ala3Glu) variant of PTEN (P60484)
A3E (p.Ala3Glu) in PTEN (P60484) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A3E (p.Ala3Glu) variant details
- p.Ala3Glu
- gnomAD 10-87863969-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- ESM-1b 0.00
- AlphaMissense 0.69
- CADD 16.40
- Population evidence available
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.01
- Literature evidence available