P27S (p.Pro27Ser) variant of SATB2 (DNA-binding protein SATB2)
P27S (p.Pro27Ser) in SATB2 (DNA-binding protein SATB2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
P27S (p.Pro27Ser) variant details
- p.Pro27Ser
- TOPMed rs989025045
- gnomAD rs989025045
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.34
- ESM-1b 1.00
- AlphaMissense 0.10
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available