P40S (p.Pro40Ser) variant of SATB2 (DNA-binding protein SATB2)
P40S (p.Pro40Ser) 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 0.48 / 1. The record also includes population frequency data and structural context.
P40S (p.Pro40Ser) variant details
- p.Pro40Ser
- gnomAD rs1191904885
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.20
- CADD 25.30
- PolyPhen-2 0.36
- SIFT 0.04
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available