K13T (p.Lys13Thr) variant of PTEN (P60484)
K13T (p.Lys13Thr) in PTEN (P60484) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes experimental measurements and structural context.
K13T (p.Lys13Thr) variant details
- p.Lys13Thr
- gnomAD rs1414611362
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.999
- ESM-1b 1.00
- AlphaMissense 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- PTEN VAMP-seq Combined: score 0.864