E18Q (p.Glu18Gln) variant of CALR (Calreticulin)
E18Q (p.Glu18Gln) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
E18Q (p.Glu18Gln) variant details
- p.Glu18Gln
- TOPMed rs775581620
- gnomAD rs775581620
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.08
- CADD 14.00
- PolyPhen-2 0.00
- SIFT 0.38
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available