S72Y (p.Ser72Tyr) variant of SATB2 (DNA-binding protein SATB2)
S72Y (p.Ser72Tyr) in SATB2 (DNA-binding protein SATB2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
S72Y (p.Ser72Tyr) variant details
- p.Ser72Tyr
- ExAC rs755238845
- gnomAD rs755238845
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.10
- ESM-1b 1.00
- AlphaMissense 0.14
- CADD 24.50
- PolyPhen-2 0.90
- SIFT 0.16
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available