E39K (p.Glu39Lys) variant of CALR (Calreticulin)
E39K (p.Glu39Lys) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
E39K (p.Glu39Lys) variant details
- p.Glu39Lys
- gnomAD 19-12939157-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.15
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.78
- Population evidence available
- Structural context available
- Literature evidence available