E18D (p.Glu18Asp) variant of CALR (Calreticulin)
E18D (p.Glu18Asp) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
E18D (p.Glu18Asp) variant details
- p.Glu18Asp
- gnomAD 19-12938733-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0858
- REVEL 0.09
- CADD 1.78
- PolyPhen-2 0.00
- SIFT 0.53
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available