V131L (p.Val131Leu) variant of SATB2 (DNA-binding protein SATB2)
V131L (p.Val131Leu) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
V131L (p.Val131Leu) variant details
- p.Val131Leu
- rs1689785051
- ClinGen CA350389206
- ClinVar RCV001327321
- gnomAD rs1689785051
- Uncertain significance
- Chromosome 2q32-q33 deletion syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.24
- ESM-1b 1.00
- AlphaMissense 0.37
- CADD 19.40
- ClinVar: Uncertain significance (Chromosome 2q32-q33 deletion syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)