P28A (p.Pro28Ala) variant of SATB2 (DNA-binding protein SATB2)
P28A (p.Pro28Ala) in SATB2 (DNA-binding protein SATB2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
P28A (p.Pro28Ala) variant details
- p.Pro28Ala
- Ensembl rs1559066045
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.05
- CADD 23.70
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available