L96R (p.Leu96Arg) variant of SATB2 (DNA-binding protein SATB2)
L96R (p.Leu96Arg) in SATB2 (DNA-binding protein SATB2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes structural context.
L96R (p.Leu96Arg) variant details
- p.Leu96Arg
- rs1064795247
- ClinGen CA16617413
- ClinVar RCV000485845
- Ensembl rs1064795247
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.28
- MetaSVM -0.51
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available