V51M (p.Val51Met) variant of SATB2 (DNA-binding protein SATB2)
V51M (p.Val51Met) in SATB2 (DNA-binding protein SATB2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Inborn genetic diseases; Chromosome 2q32-q33 deletion syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
V51M (p.Val51Met) variant details
- p.Val51Met
- rs540871216
- ClinGen CA2046160
- ClinVar RCV001510105
- ClinVar RCV002568013
- Benign/Likely benign
- Inborn genetic diseases; Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Benign/Likely benign (Inborn genetic diseases; Chromosome 2q32-q33 deletion syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BRAHUI population (allele frequency 0.022)
- 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)