A11T (p.Ala11Thr) variant of MSI1 (O43347)
A11T (p.Ala11Thr) in MSI1 (O43347) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A11T (p.Ala11Thr) variant details
- p.Ala11Thr
- TOPMed rs1188321039
- gnomAD rs1188321039
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.07
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.59
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available