A72A (p.Ala72Ala) variant of CALR (Calreticulin)
A72A (p.Ala72Ala) in CALR (Calreticulin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A72A (p.Ala72Ala) variant details
- p.Ala72Ala
- gnomAD 19-12939450-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.274
- CADD 16.80
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available