V131E (p.Val131Glu) variant of SATB2 (DNA-binding protein SATB2)
V131E (p.Val131Glu) 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 0.62 / 1. The record also includes structural context.
V131E (p.Val131Glu) variant details
- p.Val131Glu
- rs1064794638
- ClinGen CA16617412
- ClinVar RCV000485195
- Ensembl rs1064794638
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.55
- MetaSVM 0.15
- PolyPhen-2 0.80
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available