V23F (p.Val23Phe) variant of SATB2 (DNA-binding protein SATB2)
V23F (p.Val23Phe) 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; Chromosome 2q32-q33 deletion syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
V23F (p.Val23Phe) variant details
- p.Val23Phe
- rs2469069862
- ClinGen CA350388555
- ClinVar RCV002734885
- ClinVar RCV003232658
- Uncertain significance
- not provided; Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 22.30
- PolyPhen-2 0.04
- SIFT 0.38
- ClinVar: Uncertain significance (not provided; Chromosome 2q32-q33 deletion syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)