V9F (p.Val9Phe) variant of PTEN (P60484)
V9F (p.Val9Phe) 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.
V9F (p.Val9Phe) variant details
- p.Val9Phe
- Ensembl rs1564801672
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.995
- ESM-1b 1.00
- AlphaMissense 0.99
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.762