G38S (p.Gly38Ser) variant of SATB2 (DNA-binding protein SATB2)
G38S (p.Gly38Ser) 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 0.50 / 1. The record also includes population frequency data and structural context.
G38S (p.Gly38Ser) variant details
- p.Gly38Ser
- gnomAD rs1458922428
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.26
- CADD 29.20
- PolyPhen-2 0.91
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available