D141E (p.Asp141Glu) variant of SATB2 (DNA-binding protein SATB2)
D141E (p.Asp141Glu) in SATB2 (DNA-binding protein SATB2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
D141E (p.Asp141Glu) variant details
- p.Asp141Glu
- gnomAD rs1401692784
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.51
- ESM-1b 1.00
- AlphaMissense 0.61
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available