Q80R (p.Gln80Arg) variant of MSI1 (O43347)
Q80R (p.Gln80Arg) in MSI1 (O43347) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
Q80R (p.Gln80Arg) variant details
- p.Gln80Arg
- ExAC rs752795681
- gnomAD rs752795681
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.22
- CADD 23.50
- PolyPhen-2 0.03
- SIFT 0.10
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available