G54D (p.Gly54Asp) variant of CALR (Calreticulin)
G54D (p.Gly54Asp) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
G54D (p.Gly54Asp) variant details
- p.Gly54Asp
- gnomAD 19-12939203-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.76
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available