E7Q (p.Glu7Gln) variant of PTEN (P60484)
E7Q (p.Glu7Gln) in PTEN (P60484) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes experimental measurements and structural context.
E7Q (p.Glu7Gln) variant details
- p.Glu7Gln
- Ensembl rs1554890335
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- ESM-1b 0.00
- AlphaMissense 0.31
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PTEN VAMP-seq Combined: score 0.577