K24R (p.Lys24Arg) variant of SATB2 (DNA-binding protein SATB2)
K24R (p.Lys24Arg) 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 Chromosome 2q32-q33 deletion syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
K24R (p.Lys24Arg) variant details
- p.Lys24Arg
- rs1176416627
- ClinGen CA350388547
- ClinVar RCV002046749
- TOPMed rs1176416627
- Uncertain significance
- Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 25.20
- PolyPhen-2 0.78
- SIFT 0.18
- ClinVar: Uncertain significance (Chromosome 2q32-q33 deletion syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)