L126F (p.Leu126Phe) variant of SATB2 (DNA-binding protein SATB2)
L126F (p.Leu126Phe) 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 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
L126F (p.Leu126Phe) variant details
- p.Leu126Phe
- rs1574568704
- ClinGen CA350389239
- ClinVar RCV001027981
- Ensembl rs1574568704
- Benign
- Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.41
- ESM-1b 1.00
- AlphaMissense 0.73
- CADD 25.70
- PolyPhen-2 0.92
- SIFT 0.00
- 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)