E60K (p.Glu60Lys) variant of CALR (Calreticulin)
E60K (p.Glu60Lys) 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.
E60K (p.Glu60Lys) variant details
- p.Glu60Lys
- gnomAD 19-12939220-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.02
- CADD 19.80
- PolyPhen-2 0.01
- SIFT 0.47
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available