A17A (p.Ala17Ala) variant of CALR (Calreticulin)
A17A (p.Ala17Ala) in CALR (Calreticulin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A17A (p.Ala17Ala) variant details
- p.Ala17Ala
- rs1334792849
- gnomAD 19-12938730-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.133
- CADD 7.42
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available