E61Q (p.Glu61Gln) variant of CALR (Calreticulin)
E61Q (p.Glu61Gln) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
E61Q (p.Glu61Gln) variant details
- p.Glu61Gln
- gnomAD 19-12939223-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.26
- CADD 26.90
- PolyPhen-2 0.14
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available