V55L (p.Val55Leu) variant of SATB2 (DNA-binding protein SATB2)
V55L (p.Val55Leu) in SATB2 (DNA-binding protein SATB2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Chromosome 2q32-q33 deletion syndrome; not provided; Inborn genetic diseases. 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.
V55L (p.Val55Leu) variant details
- p.Val55Leu
- rs748892556
- ClinGen CA2046159
- ClinVar RCV001242202
- ClinVar RCV001560958
- Likely benign
- Chromosome 2q32-q33 deletion syndrome; not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 21.10
- PolyPhen-2 0.01
- SIFT 0.48
- ClinVar: Likely benign (Chromosome 2q32-q33 deletion syndrome; not provided; Inborn gene)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:SINDHI population (allele frequency 0.023)
- 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)