K161R (p.Lys161Arg) variant of SATB2 (DNA-binding protein SATB2)
K161R (p.Lys161Arg) in SATB2 (DNA-binding protein SATB2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Chromosome 2q32-q33 deletion syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
K161R (p.Lys161Arg) variant details
- p.Lys161Arg
- rs1360355424
- ClinGen CA350388987
- ClinVar RCV001034453
- gnomAD rs1360355424
- Benign
- Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.24
- ESM-1b 0.41
- AlphaMissense 0.10
- CADD 24.20
- PolyPhen-2 0.87
- SIFT 0.20
- ClinVar: Benign (Chromosome 2q32-q33 deletion syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)