R4Q (p.Arg4Gln) variant of SATB2 (DNA-binding protein SATB2)
R4Q (p.Arg4Gln) in SATB2 (DNA-binding protein SATB2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R4Q (p.Arg4Gln) variant details
- p.Arg4Gln
- gnomAD rs1463296675
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 23.60
- PolyPhen-2 0.19
- SIFT 0.37
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available