S18R (p.Ser18Arg) variant of SATB2 (DNA-binding protein SATB2)
S18R (p.Ser18Arg) in SATB2 (DNA-binding protein SATB2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S18R (p.Ser18Arg) variant details
- p.Ser18Arg
- ExAC rs747894251
- gnomAD rs747894251
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.37
- CADD 24.10
- PolyPhen-2 0.48
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available