A54S (p.Ala54Ser) variant of SATB2 (DNA-binding protein SATB2)
A54S (p.Ala54Ser) in SATB2 (DNA-binding protein SATB2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A54S (p.Ala54Ser) variant details
- p.Ala54Ser
- TOPMed rs1446614613
- gnomAD rs1446614613
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.43
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available