V166A (p.Val166Ala) variant of MSI1 (O43347)
V166A (p.Val166Ala) in MSI1 (O43347) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
V166A (p.Val166Ala) variant details
- p.Val166Ala
- TOPMed rs1282815934
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.36
- CADD 24.10
- PolyPhen-2 0.21
- SIFT 0.05
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available