V139A (p.Val139Ala) variant of SATB2 (DNA-binding protein SATB2)
V139A (p.Val139Ala) 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 0.76 / 1. The record also includes structural context.
V139A (p.Val139Ala) variant details
- p.Val139Ala
- rs1689783884
- ClinGen CA350389153
- ClinVar RCV001311976
- Ensembl rs1689783884
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.66
- MetaSVM 0.42
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available