K6T (p.Lys6Thr) variant of PTEN (P60484)
K6T (p.Lys6Thr) in PTEN (P60484) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; PTEN hamartoma tumor syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes experimental measurements and structural context.
K6T (p.Lys6Thr) variant details
- p.Lys6Thr
- NCI-TCGA Cosmic COSV6428
- NCI-TCGA Cosmic COSV6429
- Uncertain significance
- Hereditary cancer-predisposing syndrome; PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.80
- MetaSVM 0.38
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; PTEN hamartoma tumor sy)
- UniProt: Uncertain significance
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.24