K89R (p.Lys89Arg) variant of SATB2 (DNA-binding protein SATB2)
K89R (p.Lys89Arg) in SATB2 (DNA-binding protein SATB2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Chromosome 2q32-q33 deletion syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
K89R (p.Lys89Arg) variant details
- p.Lys89Arg
- rs769528257
- ClinGen CA2046122
- ClinVar RCV002621002
- ClinVar RCV002621003
- Conflicting interpretations
- Inborn genetic diseases; Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.40
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Chromosome 2q32-q33 deletion syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)