A3G (p.Ala3Gly) variant of PTEN (P60484)
A3G (p.Ala3Gly) 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 0.26 / 1. The record also includes experimental measurements and structural context.
A3G (p.Ala3Gly) variant details
- p.Ala3Gly
- Ensembl rs1564801650
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- ESM-1b 0.00
- AlphaMissense 0.18
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.01