D31E (p.Asp31Glu) variant of CALR (Calreticulin)
D31E (p.Asp31Glu) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
D31E (p.Asp31Glu) variant details
- p.Asp31Glu
- gnomAD 19-12939135-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.20
- CADD 14.50
- PolyPhen-2 0.01
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available