D59E (p.Asp59Glu) variant of CALR (Calreticulin)
D59E (p.Asp59Glu) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
D59E (p.Asp59Glu) variant details
- p.Asp59Glu
- gnomAD 19-12939219-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.21
- CADD 22.90
- PolyPhen-2 0.10
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available
- Literature evidence available