D45V (p.Asp45Val) variant of CALR (Calreticulin)
D45V (p.Asp45Val) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
D45V (p.Asp45Val) variant details
- p.Asp45Val
- ExAC rs753324324
- TOPMed rs753324324
- gnomAD rs753324324
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.55
- CADD 26.70
- PolyPhen-2 0.33
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available