G47S (p.Gly47Ser) variant of CALR (Calreticulin)
G47S (p.Gly47Ser) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G47S (p.Gly47Ser) variant details
- p.Gly47Ser
- gnomAD 19-12939181-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.83
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available