E18K (p.Glu18Lys) variant of CALR (Calreticulin)
E18K (p.Glu18Lys) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
E18K (p.Glu18Lys) variant details
- p.Glu18Lys
- gnomAD 19-12938731-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.08
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.47
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available