G30E (p.Gly30Glu) variant of CALR (Calreticulin)
G30E (p.Gly30Glu) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
G30E (p.Gly30Glu) variant details
- p.Gly30Glu
- gnomAD rs1236351578
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.21
- CADD 27.60
- PolyPhen-2 0.78
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available