R122S (p.Arg122Ser) variant of SATB2 (DNA-binding protein SATB2)
R122S (p.Arg122Ser) in SATB2 (DNA-binding protein SATB2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
R122S (p.Arg122Ser) variant details
- p.Arg122Ser
- TOPMed rs1689786468
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.36
- ESM-1b 1.00
- AlphaMissense 0.69
- CADD 23.20
- PolyPhen-2 0.04
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available