N48D (p.Asn48Asp) variant of SATB2 (DNA-binding protein SATB2)
N48D (p.Asn48Asp) in SATB2 (DNA-binding protein SATB2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
N48D (p.Asn48Asp) variant details
- p.Asn48Asp
- gnomAD rs1188890432
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.23
- CADD 23.80
- PolyPhen-2 0.25
- SIFT 0.10
- Population evidence available
- Structural context available