M190T (p.Met190Thr) variant of MSI1 (O43347)
M190T (p.Met190Thr) in MSI1 (O43347) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
M190T (p.Met190Thr) variant details
- p.Met190Thr
- gnomAD rs1232444067
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.51
- CADD 24.00
- PolyPhen-2 0.15
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available