V149A (p.Val149Ala) variant of SATB2 (DNA-binding protein SATB2)
V149A (p.Val149Ala) 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 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
V149A (p.Val149Ala) variant details
- p.Val149Ala
- rs765278258
- ClinGen CA2046085
- ClinVar RCV001763873
- ClinVar RCV006467893
- Uncertain significance
- Chromosome 2q32-q33 deletion syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.44
- ESM-1b 1.00
- AlphaMissense 0.79
- CADD 26.90
- PolyPhen-2 0.99
- SIFT 0.01
- 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 3e-05)
- Structural context available
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)