Y75C (p.Tyr75Cys) variant of SATB2 (DNA-binding protein SATB2)
Y75C (p.Tyr75Cys) in SATB2 (DNA-binding protein SATB2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
Y75C (p.Tyr75Cys) variant details
- p.Tyr75Cys
- ExAC rs750686286
- TOPMed rs750686286
- gnomAD rs750686286
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.12
- ESM-1b 1.00
- AlphaMissense 0.06
- CADD 24.80
- PolyPhen-2 0.89
- SIFT 0.17
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available