F222S (p.Phe222Ser) variant of SATB2 (DNA-binding protein SATB2)
F222S (p.Phe222Ser) in SATB2 (DNA-binding protein SATB2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Chromosome 2q32-q33 deletion syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 1 / 1. The record also includes published literature and structural context.
F222S (p.Phe222Ser) variant details
- p.Phe222Ser
- rs2468928533
- ClinGen CA350387323
- ClinVar RCV003224963
- Likely pathogenic
- Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 1
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Likely pathogenic (Chromosome 2q32-q33 deletion syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)