G13A (p.Gly13Ala) variant of CALR (Calreticulin)
G13A (p.Gly13Ala) in CALR (Calreticulin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
G13A (p.Gly13Ala) variant details
- p.Gly13Ala
- gnomAD 19-12938714-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.491
- CADD 8.88
- Population evidence available
- Structural context available
- Literature evidence available