R11Q (p.Arg11Gln) variant of SATB2 (DNA-binding protein SATB2)
R11Q (p.Arg11Gln) in SATB2 (DNA-binding protein SATB2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R11Q (p.Arg11Gln) variant details
- p.Arg11Gln
- TOPMed rs1692262207
- gnomAD rs1692262207
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.49
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available