R122K (p.Arg122Lys) variant of SATB2 (DNA-binding protein SATB2)
R122K (p.Arg122Lys) 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 0.30 / 1. The record also includes published literature and structural context.
R122K (p.Arg122Lys) variant details
- p.Arg122Lys
- rs1182083147
- ClinGen CA350389268
- ClinVar RCV003741388
- NCI-TCGA TCGA novel
- Benign
- Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- ESM-1b 0.00
- AlphaMissense 0.53
- MetaLR 0.30
- MetaSVM -0.62
- PolyPhen-2 0.02
- SIFT 0.01
- ClinVar: Benign (Chromosome 2q32-q33 deletion syndrome)
- EBI: Benign
- UniProt: Benign
- Structural context available
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)