I4N (p.Ile4Asn) variant of PTEN (P60484)
I4N (p.Ile4Asn) 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 0.82 / 1. The record also includes experimental measurements and structural context.
I4N (p.Ile4Asn) variant details
- p.Ile4Asn
- Ensembl rs1858394571
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- ESM-1b 1.00
- AlphaMissense 0.60
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.65