K47N (p.Lys47Asn) variant of MSI1 (O43347)
K47N (p.Lys47Asn) in MSI1 (O43347) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
K47N (p.Lys47Asn) variant details
- p.Lys47Asn
- ESP rs376421673
- ExAC rs376421673
- TOPMed rs376421673
- gnomAD rs376421673
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.28
- CADD 22.90
- PolyPhen-2 0.27
- SIFT 0.21
- Population evidence available
- Structural context available