R14M (p.Arg14Met) variant of PTEN (P60484)
R14M (p.Arg14Met) 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 0.99 / 1. The record also includes experimental measurements and structural context.
R14M (p.Arg14Met) variant details
- p.Arg14Met
- NCI-TCGA Cosmic COSV6428
- Ensembl rs1589596246
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.994
- ESM-1b 1.00
- AlphaMissense 0.99
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.41