A72T (p.Ala72Thr) variant of CALR (Calreticulin)
A72T (p.Ala72Thr) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
A72T (p.Ala72Thr) variant details
- p.Ala72Thr
- TOPMed rs1228790764
- gnomAD rs1228790764
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.55
- CADD 31.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available