H17Q (p.His17Gln) variant of MSI1 (O43347)
H17Q (p.His17Gln) in MSI1 (O43347) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
H17Q (p.His17Gln) variant details
- p.His17Gln
- Ensembl rs1876222624
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.18
- CADD 19.10
- PolyPhen-2 0.03
- SIFT 0.10
- Population evidence available
- Structural context available