M69T (p.Met69Thr) variant of MSI1 (O43347)
M69T (p.Met69Thr) in MSI1 (O43347) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
M69T (p.Met69Thr) variant details
- p.Met69Thr
- 1000Genomes rs542793076
- gnomAD rs542793076
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.24
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.28
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available