D14H (p.Asp14His) variant of MSI1 (O43347)
D14H (p.Asp14His) in MSI1 (O43347) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
D14H (p.Asp14His) variant details
- p.Asp14His
- TOPMed rs1876223515
- gnomAD rs1876223515
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.07
- CADD 22.90
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available