V17M (p.Val17Met) variant of SIX1 (Homeobox protein SIX1)
V17M (p.Val17Met) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V17M (p.Val17Met) variant details
- p.Val17Met
- gnomAD rs1197458982
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- CADD 25.70
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.476