C181S (p.Cys181Ser) variant of MSI1 (O43347)
C181S (p.Cys181Ser) in MSI1 (O43347) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
C181S (p.Cys181Ser) variant details
- p.Cys181Ser
- ExAC rs776037606
- gnomAD rs776037606
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.78
- CADD 24.60
- PolyPhen-2 0.03
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available