R122M (p.Arg122Met) variant of SATB2 (DNA-binding protein SATB2)
R122M (p.Arg122Met) in SATB2 (DNA-binding protein SATB2) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes structural context.
R122M (p.Arg122Met) variant details
- p.Arg122Met
- gnomAD rs1182083147
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- ESM-1b 1.00
- AlphaMissense 0.68
- EBI: Benign
- UniProt: Benign
- Structural context available