Q113H (p.Gln113His) variant of SATB2 (DNA-binding protein SATB2)
Q113H (p.Gln113His) in SATB2 (DNA-binding protein SATB2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
Q113H (p.Gln113His) variant details
- p.Gln113His
- gnomAD rs1691558786
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.24
- ESM-1b 1.00
- AlphaMissense 0.90
- CADD 23.20
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available