A100V (p.Ala100Val) variant of SATB2 (DNA-binding protein SATB2)
A100V (p.Ala100Val) in SATB2 (DNA-binding protein SATB2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
A100V (p.Ala100Val) variant details
- p.Ala100Val
- TOPMed rs1691560643
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.39
- ESM-1b 1.00
- AlphaMissense 0.92
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.05
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available