I8V (p.Ile8Val) variant of PTEN (P60484)
I8V (p.Ile8Val) in PTEN (P60484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes structural context.
I8V (p.Ile8Val) variant details
- p.Ile8Val
- Ensembl rs2132145527
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- ESM-1b 1.00
- AlphaMissense 0.11
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available