D12N (p.Asp12Asn) variant of SATB2 (DNA-binding protein SATB2)
D12N (p.Asp12Asn) 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.
D12N (p.Asp12Asn) variant details
- p.Asp12Asn
- gnomAD rs1282358129
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 23.40
- PolyPhen-2 0.00
- SIFT 0.09
- Population evidence available
- Structural context available