D45G (p.Asp45Gly) variant of CALR (Calreticulin)
D45G (p.Asp45Gly) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
D45G (p.Asp45Gly) variant details
- p.Asp45Gly
- ExAC rs753324324
- TOPMed rs753324324
- gnomAD rs753324324
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.56
- CADD 32.00
- PolyPhen-2 0.52
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available