E79G (p.Glu79Gly) variant of SATB2 (DNA-binding protein SATB2)
E79G (p.Glu79Gly) in SATB2 (DNA-binding protein SATB2) 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 0.81 / 1. The record also includes structural context.
E79G (p.Glu79Gly) variant details
- p.Glu79Gly
- rs2469034184
- ClinGen CA350386849
- ClinVar RCV003322986
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- ESM-1b 1.00
- AlphaMissense 0.58
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available