S649L (p.Ser649Leu) variant of SATB2 (DNA-binding protein SATB2)
S649L (p.Ser649Leu) in SATB2 (DNA-binding protein SATB2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Chromosome 2q32-q33 deletion syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
S649L (p.Ser649Leu) variant details
- p.Ser649Leu
- rs746319722
- ClinGen CA2045777
- NCI-TCGA Cosmic COSV5348
- cosmic curated COSV53488
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Chromosome 2q32-q33 deletion syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 29.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Chromosome 2q32-q33 deletion syndrome;)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)