K53R (p.Lys53Arg) variant of SATB2 (DNA-binding protein SATB2)
K53R (p.Lys53Arg) 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 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
K53R (p.Lys53Arg) variant details
- p.Lys53Arg
- rs2469069594
- ClinGen CA350388361
- ClinVar RCV003142743
- Uncertain significance
- Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 24.40
- PolyPhen-2 0.84
- SIFT 0.43
- ClinVar: Uncertain significance (Chromosome 2q32-q33 deletion syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)