G71C (p.Gly71Cys) variant of SATB2 (DNA-binding protein SATB2)
G71C (p.Gly71Cys) in SATB2 (DNA-binding protein SATB2) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
G71C (p.Gly71Cys) variant details
- p.Gly71Cys
- ExAC rs756865617
- TOPMed rs756865617
- gnomAD rs756865617
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.04
- ESM-1b 1.00
- AlphaMissense 0.09
- CADD 20.00
- PolyPhen-2 0.01
- SIFT 0.03
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available