L69M (p.Leu69Met) variant of SATB2 (DNA-binding protein SATB2)
L69M (p.Leu69Met) in SATB2 (DNA-binding protein SATB2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
L69M (p.Leu69Met) variant details
- p.Leu69Met
- ExAC rs745323861
- TOPMed rs745323861
- gnomAD rs745323861
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.20
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available