R16Q (p.Arg16Gln) variant of SATB2 (DNA-binding protein SATB2)
R16Q (p.Arg16Gln) 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 0.34 / 1. The record also includes population frequency data and structural context.
R16Q (p.Arg16Gln) variant details
- p.Arg16Gln
- gnomAD rs1295030903
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 23.20
- PolyPhen-2 0.09
- SIFT 0.26
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available