D22E (p.Asp22Glu) variant of SATB2 (DNA-binding protein SATB2)
D22E (p.Asp22Glu) in SATB2 (DNA-binding protein SATB2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
D22E (p.Asp22Glu) variant details
- p.Asp22Glu
- TOPMed rs1405630119
- gnomAD rs1405630119
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.28
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available