A134V (p.Ala134Val) variant of SATB2 (DNA-binding protein SATB2)
A134V (p.Ala134Val) in SATB2 (DNA-binding protein SATB2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
A134V (p.Ala134Val) variant details
- p.Ala134Val
- TOPMed rs1689784754
- gnomAD rs1689784754
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.25
- ESM-1b 1.00
- AlphaMissense 0.21
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available