V23L (p.Val23Leu) variant of SATB2 (DNA-binding protein SATB2)
V23L (p.Val23Leu) 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 Chromosome 2q32-q33 deletion syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes published literature and structural context.
V23L (p.Val23Leu) variant details
- p.Val23Leu
- rs2469069862
- ClinGen CA350388556
- ClinVar RCV003032306
- Uncertain significance
- Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- ESM-1b 0.00
- AlphaMissense 0.08
- ClinVar: Uncertain significance (Chromosome 2q32-q33 deletion syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)