E60D (p.Glu60Asp) variant of CALR (Calreticulin)
E60D (p.Glu60Asp) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
E60D (p.Glu60Asp) variant details
- p.Glu60Asp
- 1000Genomes rs550300014
- ExAC rs550300014
- gnomAD rs550300014
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.06
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.19
- Population evidence available
- Structural context available