A72T (p.Ala72Thr) variant of MSI1 (O43347)
A72T (p.Ala72Thr) in MSI1 (O43347) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
A72T (p.Ala72Thr) variant details
- p.Ala72Thr
- gnomAD rs1228479601
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.47
- CADD 24.50
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available