Y75H (p.Tyr75His) variant of SATB2 (DNA-binding protein SATB2)
Y75H (p.Tyr75His) in SATB2 (DNA-binding protein SATB2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Chromosome 2q32-q33 deletion syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Y75H (p.Tyr75His) variant details
- p.Tyr75His
- rs760905348
- ClinGen CA2046130
- ClinVar RCV001408476
- ExAC rs760905348
- Likely benign
- Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.06
- ESM-1b 1.00
- AlphaMissense 0.13
- CADD 24.00
- PolyPhen-2 0.80
- SIFT 0.46
- ClinVar: Likely benign (Chromosome 2q32-q33 deletion syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)