T26S (p.Thr26Ser) variant of PTEN (P60484)
T26S (p.Thr26Ser) 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 0.73 / 1. The record also includes experimental measurements and structural context.
T26S (p.Thr26Ser) variant details
- p.Thr26Ser
- gnomAD rs786204853
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- ESM-1b 0.65
- AlphaMissense 0.77
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.471