T193A (p.Thr193Ala) variant of MSI1 (O43347)
T193A (p.Thr193Ala) in MSI1 (O43347) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
T193A (p.Thr193Ala) variant details
- p.Thr193Ala
- ExAC rs780777611
- gnomAD rs780777611
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.20
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.77
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available