E18Q (p.Glu18Gln) variant of PTEN (P60484)
E18Q (p.Glu18Gln) 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 0.81 / 1. The record also includes experimental measurements and structural context.
E18Q (p.Glu18Gln) variant details
- p.Glu18Gln
- Ensembl rs1554890385
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- ESM-1b 1.00
- AlphaMissense 0.58
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.48