R78K (p.Arg78Lys) variant of SATB2 (DNA-binding protein SATB2)
R78K (p.Arg78Lys) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R78K (p.Arg78Lys) variant details
- p.Arg78Lys
- rs767582582
- ClinGen CA2046128
- cosmic curated COSV10459
- ClinVar RCV001368812
- Benign
- Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 19.60
- PolyPhen-2 0.03
- SIFT 0.83
- ClinVar: Benign (Chromosome 2q32-q33 deletion syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)