E60E (p.Glu60Glu) variant of CALR (Calreticulin)
E60E (p.Glu60Glu) in CALR (Calreticulin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
E60E (p.Glu60Glu) variant details
- p.Glu60Glu
- rs550300014
- gnomAD 19-12939222-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.461
- CADD 14.30
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available