D70H (p.Asp70His) variant of MSI1 (O43347)
D70H (p.Asp70His) in MSI1 (O43347) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
D70H (p.Asp70His) variant details
- p.Asp70His
- TOPMed rs1038401875
- gnomAD rs1038401875
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.78
- CADD 29.30
- PolyPhen-2 0.53
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available