D70N (p.Asp70Asn) variant of MSI1 (O43347)
D70N (p.Asp70Asn) in MSI1 (O43347) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
D70N (p.Asp70Asn) variant details
- p.Asp70Asn
- TOPMed rs1038401875
- gnomAD rs1038401875
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.55
- CADD 32.00
- PolyPhen-2 0.95
- SIFT 0.03
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available