V55M (p.Val55Met) variant of SATB2 (DNA-binding protein SATB2)
V55M (p.Val55Met) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
V55M (p.Val55Met) variant details
- p.Val55Met
- rs748892556
- ClinGen CA350388351
- ClinVar RCV002762702
- ClinVar RCV005099622
- Uncertain significance
- Chromosome 2q32-q33 deletion syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.11
- ClinVar: Uncertain significance (Chromosome 2q32-q33 deletion syndrome; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- 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)