L92P (p.Leu92Pro) variant of SATB2 (DNA-binding protein SATB2)
L92P (p.Leu92Pro) 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
L92P (p.Leu92Pro) variant details
- p.Leu92Pro
- rs746334982
- ClinGen CA64291161
- ClinVar RCV003026672
- TOPMed rs746334982
- Benign
- Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- REVEL 0.58
- ESM-1b 0.68
- AlphaMissense 0.55
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.07
- ClinVar: Benign (Chromosome 2q32-q33 deletion syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)