E38K (p.Glu38Lys) variant of MSI1 (O43347)
E38K (p.Glu38Lys) in MSI1 (O43347) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
E38K (p.Glu38Lys) variant details
- p.Glu38Lys
- gnomAD rs1339175713
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.57
- CADD 23.80
- PolyPhen-2 0.31
- SIFT 0.11
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available