I4F (p.Ile4Phe) variant of PTEN (P60484)
I4F (p.Ile4Phe) in PTEN (P60484) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes experimental measurements and structural context.
I4F (p.Ile4Phe) variant details
- p.Ile4Phe
- Ensembl rs1647701808
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- ESM-1b 0.00
- AlphaMissense 0.07
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.65